414 results match your criteria Indian journal of human genetics[Journal]


Association of maternal folate with methylene tetrahydrofolate reductase polymorphism relationship in infants <3 months with Down syndrome.

Indian J Hum Genet 2014 Apr;20(2):209-10

Department of Pediatrics, Division of Genetics, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India.

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http://www.ijhg.com/text.asp?2014/20/2/209/142915
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http://dx.doi.org/10.4103/0971-6866.142915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228579PMC
April 2014
7 Reads

Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature.

Indian J Hum Genet 2014 Apr;20(2):206-8

Department of Orthopaedics, Vardhaman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism). It is listed as a "rare disease" by the Office of Rare Diseases of the National Institutes of Health. Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity. Read More

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http://dx.doi.org/10.4103/0971-6866.142914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228578PMC
April 2014
5 Reads

Phenotypical characterization of 13q deletion syndrome: Report of two cases.

Indian J Hum Genet 2014 Apr;20(2):203-5

Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran ; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13. These patients fall into three groups: In Group 1, deleted region is in the proximal and does not extend into q32; in Group 2, deleted region involves proximal to the q32 and in Group 3 q33-q34 is deleted. We present two cases with 13q syndrome with two different deleted region and different severity on clinical features: One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations. Read More

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http://dx.doi.org/10.4103/0971-6866.142912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228577PMC
April 2014
9 Reads
1 Citation

First report of c. 1499G>C mutation in a 6-month-child with cystic fibrosis.

Indian J Hum Genet 2014 Apr;20(2):199-202

Research Center for Prevention of Psychosocial Injuries, Ilam University of Medical Sciences, Ilam, Iran.

So far, more than 1800 mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In this case report, we presented first report of c. 1499G>C mutation in a 6-month-old girl with cystic fibrosis (CF) diagnosis. Read More

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http://dx.doi.org/10.4103/0971-6866.142911DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228576PMC
April 2014
3 Reads

Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex).

Indian J Hum Genet 2014 Apr;20(2):195-8

Department of Pathology, Goa Medical College, Bambolim, Goa, India.

OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect. We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC). Read More

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http://www.ijhg.com/text.asp?2014/20/2/195/142906
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http://dx.doi.org/10.4103/0971-6866.142906DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228575PMC
April 2014
9 Reads

Constitutional mismatch repair deficiency syndrome: Do we know it?

Indian J Hum Genet 2014 Apr;20(2):192-4

Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bengaluru, Karnataka, India.

Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer. Read More

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http://dx.doi.org/10.4103/0971-6866.142902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228574PMC
April 2014
3 Reads

Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation.

Indian J Hum Genet 2014 Apr;20(2):189-91

Department of Pediatrics, AVBRH, Sawangi, Wardha, Maharashtra, India.

We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane's retraction syndrome and congenital deafness. Since the first case was reported in 1952, there have been more reports describing this triad either complete or incomplete. Our case has a complete triad of the syndrome along with frontal sinus hypoplasia. Read More

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http://dx.doi.org/10.4103/0971-6866.142899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228573PMC
April 2014
9 Reads

Fetal valproate syndrome.

Indian J Hum Genet 2014 Apr;20(2):187-8

Department of Pediatrics, Bai Jerbai Wadia Hospital for Children, Parel, Mumbai, Maharashtra, India.

Antenatal use of anticonvulsant valproic acid can result in a well-recognized cluster of facial dysmorphism, congenital anomalies and neurodevelopmental retardation. In this report, we describe a case with typical features of fetal valproate syndrome (FVS). A 26-year-old female with epilepsy controlled on sodium valproate 800 mg/day since 3 years, gave birth to a male child with characteristic features of FVS. Read More

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http://dx.doi.org/10.4103/0971-6866.142898DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228572PMC
April 2014
7 Reads

Ectopia cilia with pedigree analysis: Second case report in the world.

Indian J Hum Genet 2014 Apr;20(2):185-6

Department of Medicine, Muzaffarnagar Medical College and Hospital, Muzaffarnagar, Uttar Pradesh, India.

We present a case of ectopia cilia in a 28-year-old male patient. Ectopia cilia was were seen in the outer third of left upper eyelid. The patient's maternal grandfather also had ectopia cilia of the left upper eyelid as reported by the patient's mother. Read More

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http://dx.doi.org/10.4103/0971-6866.142897DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228571PMC
April 2014
5 Reads

Prevalence of genetic variants associated with cardiovascular disease risk and drug response in the Southern Indian population of Kerala.

Indian J Hum Genet 2014 Apr;20(2):175-84

MedGenome (Division of Molecular Diagnostics), SciGenom Labs Pvt. Ltd, CSEZ, Kakkanad, Cochin, Kerala, India.

Background And Aim: This study reports the prevalence of five clinically significant variants associated with increased risk of cardiovascular disorders, and variable responses of individuals to commonly prescribed cardiovascular drugs in a South Indian population from the state of Kerala.

Materials And Methods: Genomic DNA isolated from 100 out-patient samples from Kerala were sequenced to examine the frequency of clinically relevant polymorphisms in the genes MYBPC3 (cardiomyopathy), SLCO1B1 (statin-induced myopathy), CYP2C9, VKORC1 (response to warfarin) and CYP2C19 (response to clopidogrel).

Results: Our analyses revealed the frequency of a 25 bp deletion variant of MYBPC3 associated with risk of cardiomyopathy was 7%, and the SLCO1B1 "C" allele associated with risk for statin-induced myopathy was 15% in this sample group. Read More

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http://dx.doi.org/10.4103/0971-6866.142896DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228570PMC
April 2014
18 Reads

Insertion-deletions burden in copy number polymorphisms of the Tibetan population.

Indian J Hum Genet 2014 Apr;20(2):166-74

Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.

Background: Many studies have been conducted to identify either insertions-deletions (inDels) or copy number variations (CNVs) in humans, but few studies have been conducted to identify both of these forms coexisting in the same region.

Aims And Objectives: To map the functionally significant sites within human genes that are likely to influence human traits and diseases.

Materials And Methods: In this report, we describe an inDel map in the 1051 Tibetan CNV regions obtained through CNV genotyping using Affymetrix Genome-wide single nucleotide polymorphism 6. Read More

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http://dx.doi.org/10.4103/0971-6866.142888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228569PMC
April 2014
6 Reads

FLT3 and NPM-1 mutations in a cohort of acute promyelocytic leukemia patients from India.

Indian J Hum Genet 2014 Apr;20(2):160-5

Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology, Indian Council of Medical Research, K.E.M. Hospital, Parel, Mumbai, Maharashtra, India.

Background: Acute promyelocytic leukemia (APL) with t (15;17) is a distinct category of acute myeloid leukemia (AML) and is reported to show better response to anthracyclin based chemotherapy. A favorable overall prognosis over other subtypes of AML has been reported for APL patients but still about 15% patients relapse.

Methods: This study evaluated the presence of Famus like tyrosine kinase-3 (FLT3) and nucleophosmin-1 (NPM1) gene mutations in a cohort of 40 APL patients. Read More

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http://dx.doi.org/10.4103/0971-6866.142884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228568PMC
April 2014
9 Reads

Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis.

Indian J Hum Genet 2014 Apr;20(2):155-9

Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.

Background: 677C to T allele in the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of various syndromes and nonsyndromic diseases but till date no direct studies have been reported with craniosynostosis.

Objectives: The aim was to study the family-based association of MTHFR polymorphism in different categories of craniosynostosis patients.

Materials And Methods: This was a cross-sectional study in which 30 patients classified as Apert syndrome, Pfeiffr syndrome and nonsyndromic craniosynostosis patients with their family were recruited. Read More

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http://dx.doi.org/10.4103/0971-6866.142882DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228567PMC
April 2014
8 Reads

Cost-effectiveness analysis for triple markers serum screening for Down's syndrome in Thai setting.

Authors:
Viroj Wiwanitkit

Indian J Hum Genet 2014 Apr;20(2):153-4

Hainan Medical University, China ; Faculty of Medicine, University of Nis, Serbia ; Joseph Ayobabalola University, Nigeria.

Background: Down's syndrome is an important congenital chromosomal disorder that can be seen around the world. The antenatal screening for this disorder is an important processing in present obstetrics.

Objective: Due to the concept of first do no harm, the use of noninvasive test is recommended. Read More

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http://dx.doi.org/10.4103/0971-6866.142880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228566PMC
April 2014
4 Reads

Genetic diversity of 15 autosomal short tandem repeats loci using the AmpFLSTR(®) Identifiler™ kit in a Bhil Tribe Population from Gujarat state, India.

Indian J Hum Genet 2014 Apr;20(2):148-52

Institute of Forensic Sciences, Gujarat Forensic Sciences University, Gandhinagar, Gujarat, India.

Materials And Methods: The genetic diversity and forensic parameters based on 15 autosomal short tandem repeats (STR) loci; D8S1179,D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317,D16S539, D2S1338, D19S433, vWA, TPOX, D18S51,D5S818, and FGA in AmpFLSTR® Identifiler™ kit from Applied Biosystems, Foster City, CA, USA were evaluated in saliva samples of 297 unrelated individuals from the Bhil Tribe population of Gujarat state, India to study genetic diversities and relatedness of this population with other national and international populations.

Results: Statistical analysis of the data revealed all loci were within Hardy-Weinberg Equilibrium expectations with the exception of the locus vWA (0.019) and locus D18S51 (0. Read More

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http://dx.doi.org/10.4103/0971-6866.142879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228565PMC
April 2014
3 Reads

Methylenetetrahydrofolate reductase polymorphism is not risk factor for Down syndrome in North India.

Indian J Hum Genet 2014 Apr;20(2):142-7

Department of Biotechnology, Human Molecular Genetics Laboratory, VBS Purvanchal University, Jaunpur, Uttar Pradesh, India.

Background: Down syndrome (DS) is the most common cause of mental retardation of genetic etiology with the prevalence rate of 1/700 to 1/1000 live births worldwide. Several polymorphisms in folate/homocysteine metabolism pathways genes have been reported as a risk factor in women for bearing DS child, but very few studies investigated these polymorphisms in DS cases whether there are a risk factor for being DS or not.

Objective: We have investigated the association of methylenetetrahydrofolate reductase (MTHFR) with the occurrence of DS in Indian population. Read More

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http://dx.doi.org/10.4103/0971-6866.142858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228564PMC
April 2014
6 Reads

Mammalian non-classical major histocompatibility complex I and its receptors: Important contexts of gene, evolution, and immunity.

Indian J Hum Genet 2014 Apr;20(2):129-41

School of Biological Sciences, National Institute of Science Education and Research, Bhubaneswar, Odisha, India.

The evolutionary conserved, less-polymorphic, nonclassical major histocompatibility complex (MHC) class I molecules: Qa-1 and its human homologue human leukocyte antigen-E (HLA-E) along with HLA-F, G and H cross-talk with the T-cell receptors and also interact with natural killer T-cells and other lymphocytes. Moreover, these nonclassical MHC molecules are known to interact with CD94/NKG2 heterodimeric receptors to induce immune responses and immune regulations. This dual role of Qa-1/HLA-E in terms of innate and adaptive immunity makes them more interesting. Read More

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http://dx.doi.org/10.4103/0971-6866.142855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228563PMC
April 2014
14 Reads

Genetics in psychiatry.

Indian J Hum Genet 2014 Apr;20(2):120-8

Department of Psychiatry, Institute of Psychiatry, Kanke, Ranchi, Jharkhand, India.

Today, psychiatrists are focusing on genetics aspects of various psychiatric disorders not only for a future classification of psychiatric disorders but also a notion that genetics would aid in the development of new medications to treat these disabling illnesses. This review therefore emphasizes on the basics of genetics in psychiatry as well as focuses on the emerging picture of genetics in psychiatry and their future implications. Read More

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http://dx.doi.org/10.4103/0971-6866.142845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228562PMC
April 2014
4 Reads

Guidelines for screening, diagnosis and management of hemoglobinopathies.

Indian J Hum Genet 2014 Apr;20(2):101-19

Department of Hematology, St. John's Medical College, Bangalore, Karnataka, India.

The β-thalassemias and sickle cell disorders are a major health burden in India. Diagnosis and management of these disorders both in adults and in newborns using appropriate approaches and uniform technology are important in different regions of a vast and diverse country as India. In view of a National Thalassemia Control Program to be launched soon, a need was felt for guidelines on whom to screen, cost-effective technologies that are to be used as well as for establishing prenatal diagnosis programs in regional centers. Read More

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http://dx.doi.org/10.4103/0971-6866.142841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228561PMC
April 2014
8 Reads

Methylenetetrahydrofolatereductase C677T polymorphism and folate metabolism in human health.

Indian J Hum Genet 2014 Apr;20(2):99-100

Department of Cytogenetics, National Institute of Immunohaematology (ICMR), K. E. M Hospital, Parel, Mumbai, Maharashtra, India.

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http://dx.doi.org/10.4103/0971-6866.142840DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228580PMC
April 2014
22 Reads

ß-thalassemia and alkaptonuria.

Indian J Hum Genet 2014 Jan;20(1):97

Hainan Medical University, China.

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http://dx.doi.org/10.4103/0971-6866.132772DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065491PMC
January 2014
7 Reads

Glucose 6-phosphate dehydrogenase deficiency in Muslim community settled in Jaunpur district.

Indian J Hum Genet 2014 Jan;20(1):96-7

Department of Biotechnology, Human Molecular Genetics Laboratory, Veer Bahadur Singh Purvanchal University, Jaunpur, Uttar Pradesh, India.

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http://dx.doi.org/10.4103/0971-6866.132770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065490PMC
January 2014
3 Reads

Split-hand/feet malformation in three tamilian families and review of the reports from India.

Indian J Hum Genet 2014 Jan;20(1):92-5

Department of Medicine, Jawaharlal Institute of Medical Education and Research, Pondicherry, India.

Split-hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India. Read More

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http://dx.doi.org/10.4103/0971-6866.132769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065489PMC
January 2014
5 Reads

Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies.

Indian J Hum Genet 2014 Jan;20(1):89-91

Department of Medical Genetics, National Institute of Health, Morocco, Africa ; Human Genomic Center, University Mohamed V Souissi, Rabat, Morocco, Africa.

Chromosomal heteromorphisms are described as interindividual variation of chromosomes without phenotypic consequence. Chromosomal polymorphisms detected include most regions of heterochromatin of chromosomes 1, 9, 16 and Y and the short arms of all acrocentric chromosomes. Here, we report a girl with Down-syndrome such as facies and tremendously enlarged short arm of a chromosome 22. Read More

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http://www.ijhg.com/text.asp?2014/20/1/89/132767
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http://dx.doi.org/10.4103/0971-6866.132767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065488PMC
January 2014
15 Reads

Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter.

Indian J Hum Genet 2014 Jan;20(1):85-8

Department of Bio-engineering, Indian Institute of Technology, Kanpur, Uttar Pradesh, India.

Rearrangements between homologous chromosomes are extremely rare and manifest mainly as monosomic or trisomic offsprings. There are remarkably few reports of balanced homologous chromosomal translocation t (22q; 22q) and only two cases of transmission of this balanced homohologous rearrangement from mother to normal daughter are reported. Robersonian translocation carriers in non-homologous chromosomes have the ability to have an unaffected child. Read More

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http://dx.doi.org/10.4103/0971-6866.132765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065487PMC
January 2014
4 Reads

Poland syndrome.

Indian J Hum Genet 2014 Jan;20(1):82-4

Department of Pediatrics, Rama Medical College, Hospital and Research Centre, Kanpur, Uttar Pradesh, India.

Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India. Read More

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http://dx.doi.org/10.4103/0971-6866.132764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065486PMC
January 2014
6 Reads

A novel chromosomal abnormality t (9;14)(p24;q13) in B-acute lymphoblastic leukemia.

Indian J Hum Genet 2014 Jan;20(1):79-81

Division of Cancer Research, Regional Cancer Centre, Medical College, Trivandrum, Kerala, India.

Acute lymphoblastic leukemia is a malignant disease of the bone marrow in which early lymphoid precursors proliferate and replace the normal hematopoietic cells of the marrow. We describe the clinical, morphologic, immunophenotypic and cytogenetic findings in the case of a 26-year-old man with B-lymphoblastic leukemia. Surface marker analysis revealed that they are positive for CD markers CD10, CD19, CD13, CD34, CD45 and HLA-DR, but negative for CD20, CD33, CD117 and CD11C markers. Read More

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http://dx.doi.org/10.4103/0971-6866.132763DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065485PMC
January 2014
8 Reads

Berardinelli-Seip syndrome type 1 in an Egyptian child.

Indian J Hum Genet 2014 Jan;20(1):75-8

Department of Pediatrics, Pediatric Endocrinology Unit, Faculty of Medicine, Assiut University, Assiut, Egypt.

Berardinelli-Seip syndrome type 1 or Berardinelli-Seip congenital lipodystrophy 1 (BSCL1) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. Its prevalence in Egypt is not known. Here, we report case of a 12-year-old Egyptian boy with the clinical, metabolic and molecular genetics manifestations of BSCL1 including overt diabetes mellitus. Read More

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http://dx.doi.org/10.4103/0971-6866.132762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065484PMC
January 2014
5 Reads

Raine syndrome.

Indian J Hum Genet 2014 Jan;20(1):72-4

Department of Pediatrics, Vijayanagar Institute of Medical Sciences, Cantonment, Bellary, Karnataka, India.

Raine syndrome is a rare genetic disorder with characteristic features of exophthalmos, choanal atresia or stenosis, osteosclerosis and cerebral calcifications. Most of babies with this disorder die immediately after birth. We report a baby who was 7 weeks old at the time of presentation. Read More

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http://dx.doi.org/10.4103/0971-6866.132761DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065483PMC
January 2014
7 Reads

Chronic myeloid leukemia in case of Klinefelter syndrome.

Indian J Hum Genet 2014 Jan;20(1):69-71

Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Klinefelter syndrome (KS) is a sex chromosome disorder and has been reported to be associated with increased risk for malignancies. We report a 22-year-old male patient who was diagnosed to have chronic myeloid leukemia in chronic phase. Bone marrow cytogenetic examination revealed karyotype 47, XXY, t (9; 22)(q34, q11) suggestive of KS with presence of Philadelphia chromosome. Read More

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http://dx.doi.org/10.4103/0971-6866.132760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065482PMC
January 2014
4 Reads

A comprehensive analysis of breakpoint cluster region-abelson fusion oncogene splice variants in chronic myeloid leukemia and their correlation with disease biology.

Authors:
Zafar Iqbal

Indian J Hum Genet 2014 Jan;20(1):64-8

Department of Clinical Laboratory Sciences, Medical Genetics and Hematology/Oncology, College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences, National Guard Health Affairs, Mail Code 3129, Riyadh 11426, Kingdom of Saudi Arabia ; Department of Hematology, Oncology and Pharmaco-genetic Engineering Sciences (HOPES) group, Health Sciences/Parasitology Research Laboratory, Department of Zoology, University of the Punjab, Lahore 54590, Pakistan ; Department of Biotechnology, Next-Generation Medical Biotechnology Division, School of Biological Sciences, University of Sargodha, Sargodha, Pakistan.

Background: BCR-ABL fusion oncogene is a hallmark of Chronic Myeloid Leukemia (CML). It results due to translocation between chromosome 22 and chromosome 9 [t (9; 22)(q34; q11)]. It gives rise to translation of a 210 KDa chimeric protein (p210), leading to enhanced tyrosine kinase activity and activation of leukemogenic pathways, ultimately causing onset of CML. Read More

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http://dx.doi.org/10.4103/0971-6866.132758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065481PMC
January 2014
16 Reads
1 Citation

Association of single nucleotide polymorphisms of CACNA1A gene in migraine.

Indian J Hum Genet 2014 Jan;20(1):59-63

Department of Neurology, SKIMS, Soura, Srinagar, Jammu and Kashmir, India.

Introduction: Migraine is a chronic, neurovascular polygenic disease where genetic and environmental factors are involved in its etiology. Dysfunction of neuronal ion transportation can provide a model for predisposition for common forms of migraine. Mutations in genes encoding ion channels disturb the rhythmic function of exposed tissue that may also explain the episodic nature of migraine. Read More

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http://dx.doi.org/10.4103/0971-6866.132757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065480PMC
January 2014
8 Reads
1 Citation

Paraoxonase1, its Q192R polymorphism and HDL-cholesterol in relation to intensive cardiac care unit stay in ischemic heart disease.

Indian J Hum Genet 2014 Jan;20(1):51-8

Department of Biochemistry, S.R.T.R. Medical College, Ambajogai, District Beed, Maharashtra, India.

Aims And Objectives: The present study was evaluated the atheroprotective potential of paraoxonase1 (PON1) and its Q192R polymorphism, to determine whether this polymorphism, which is responsible for differential PON1 activity plays any role in the pathogenesis, severity and extent of coronary artery disease (CAD).

Materials And Methods: This hospital-based cross-sectional study investigated 60 diagnosed cases of CAD and 60 age and gender matched controls. All were assessed for serum PON1 activity, PON1 Q192R polymorphism and for classical cardiovascular risk factors. Read More

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http://dx.doi.org/10.4103/0971-6866.132756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065479PMC
January 2014
2 Reads

Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children' Hospital, Mansoura, Egypt.

Indian J Hum Genet 2014 Jan;20(1):43-50

Department of Genetics Laboratories, Mansoura University Children's Hospital, Mansoura 35516, Egypt.

Background: Familial Mediterranean fever (FMF) is autosomal recessive disease that affects people from Mediterranean region, Europe and Japan. Its gene (Mediterranean fever [MEFV]) has more than 100 mostly non-sense mutations.

Objectives: The objective of the following study is to provide some phenotype-genotype correlates in FMF by categorizing the Egyptian FMF cases from Delta governorates after analysis of the four most common mutations of MEFV gene (M680I, M694I, M694V, V726A). Read More

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http://dx.doi.org/10.4103/0971-6866.132755DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065478PMC
January 2014
6 Reads

Association study of the ABCC8 gene variants with type 2 diabetes in south Indians.

Indian J Hum Genet 2014 Jan;20(1):37-42

Diabteology, Madras Diabetes Research Foundation and Dr. Mohan's Diabetes Specialities Centre, World Health Organization Collaborating Centre for Non Communicable Diseases Prevention and Control, International Diabetes Federation Centre for Education, Gopalapuram, Chennai, Tamil Nadu, India.

Background: The ABCC8 gene which encodes the sulfonylurea receptor plays a major role in insulin secretion and is a potential candidate for type 2 diabetes. The -3c → t (rs1799854) and Thr759Thr (C → T, rs1801261) single nucleotide polymorphisms (SNPs) of the ABCC8 gene have been associated with type 2 diabetes in many populations. The present study was designed to investigate the association of these two SNPs in an Asian Indian population from south India. Read More

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http://dx.doi.org/10.4103/0971-6866.132752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065476PMC
January 2014
4 Reads

Pattern of chromosome involvement in childhood hyperdiploid pre-B-cell acute lymhoblastic leukemia cases from India.

Indian J Hum Genet 2014 Jan;20(1):32-6

Department of Cytogenetics and Molecular Genetics, National Institute of Immunohaematology, KEM Hospital, Mumbai, Maharashtra, India.

Background: Hyperdiploid pre-B-cell acute lymhoblastic leukemia (pre-B-ALL) is a common form of childhood leukemia with very good prognosis with present day chemotherapy. However, the chromosomal composition of the hyperdiploidy has not been extensively studied and possible mechanism for this pathology remains so far conjectural.

Objective: To analyze the pattern of chromosome involvement in a cohort of childhood hyperdiploid pre-B-ALL from India and from this pattern to develop an understanding on the causation of such pathology. Read More

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http://dx.doi.org/10.4103/0971-6866.132751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065475PMC
January 2014
5 Reads

Neurotransmitters in alcoholism: A review of neurobiological and genetic studies.

Authors:
Niladri Banerjee

Indian J Hum Genet 2014 Jan;20(1):20-31

Amity Institute of Biotechnology, Amity University, Noida, Uttar Pradesh, India.

Recent advances in the study of alcoholism have thrown light on the involvement of various neurotransmitters in the phenomenon of alcohol addiction. Various neurotransmitters have been implicated in alcohol addiction due to their imbalance in the brain, which could be either due to their excess activity or inhibition. This review paper aims to consolidate and to summarize some of the recent papers which have been published in this regard. Read More

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http://dx.doi.org/10.4103/0971-6866.132750DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065474PMC
January 2014
3 Reads

Reactive metabolites and antioxidant gene polymorphisms in type 2 diabetes mellitus.

Indian J Hum Genet 2014 Jan;20(1):10-9

Department of Zoology, Molecular and Human Genetics Laboratory, University of Lucknow, Lucknow, Uttar Pradesh, India.

Type 2 diabetes mellitus (T2DM), by definition is a heterogeneous, multifactorial, polygenic syndrome which results from insulin receptor (IR) dysfunction. It is an outcome of oxidative stress caused by interactions of reactive metabolites (RMs) with lipids, proteins and other molecules of the human body. Production of RMs mainly superoxides (•O2 (-)) has been found in a variety of predominating cellular enzyme systems including nicotinamide adenine dinucleotide phosphate oxidase, xanthine oxidase, cyclooxygenase, endothelial nitric oxide synthase (eNOS) and myeloperoxidase. Read More

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http://dx.doi.org/10.4103/0971-6866.132747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065473PMC
January 2014
41 Reads

Genes and oral cancer.

Indian J Hum Genet 2014 Jan;20(1):4-9

Departments of Oral and Maxillofacial Surgery, Teerthanker Mahaveer Dental College and Research Centre, Moradabad, Uttar Pradesh, India.

Oral cancers have been one of the leading causes of deaths particularly in the developing countries. Prime reason for this high mortality and morbidity is attributed to the delay in diagnosis and prompt treatment. Relentless research in the field of oncology has led to the advent of novel procedures for the early detection of oral cancers. Read More

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http://dx.doi.org/10.4103/0971-6866.132745DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065477PMC
January 2014
6 Reads

Familial Mediterranean fever: An unusual disease enlightening the inflammation biology.

Authors:
Kanjaksha Ghosh

Indian J Hum Genet 2014 Jan;20(1):1-3

Department of Cytogenetics and Molecular Genetics, National Institute of Immunohaematology, K.E.M. Hospital Campus, Mumbai, Maharashtra, India.

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http://dx.doi.org/10.4103/0971-6866.132741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065472PMC
January 2014
5 Reads

Deoxyribonucleic acid profiling in forensic dental identification.

Authors:
Thorakkal Shamim

Indian J Hum Genet 2013 Oct;19(4):513

Department of Dentistry, Government Taluk Head Quarters Hospital, Malappuram, Kerala, India.

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http://dx.doi.org/10.4103/0971-6866.124387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897154PMC
October 2013
7 Reads
1 Citation

Influenza A H1N1 hemagglutinin and human axon guidance proteins: Peptide sharing but not same epitopes.

Indian J Hum Genet 2013 Oct;19(4):512

Visiting Professor, Faculty of Medicine, University of Nis, Serbia, Hainan Medical University, China, Adjunct professor, Joseph Ayobabalola University, Serbia.

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http://dx.doi.org/10.4103/0971-6866.124386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897153PMC
October 2013
2 Reads

Deoxyribonucleic acid repair gene X-ray repair cross-complementing group 1 polymorphisms and non-carcinogenic disease risk in different populations: A meta-analysis.

Indian J Hum Genet 2013 Oct;19(4):494-511

Department of Molecular Medicine, Health Research Institute, Audiology Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Purpose: This study aims to assess a meta-analysis of the association of X-ray repair cross-complementing group 1 (XRCC1) polymorphisms with the risk of various non-carcinogenic diseases in different population.

Materials And Methods: This meta-analysis was performed by critically reviewing reveals 38 studies involving 10043 cases and 11037 controls. Among all the eligible studies, 14 focused on Arg194Trp polymorphism, 33 described the Arg399Gln and three articles investigated on Arg280His. Read More

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http://dx.doi.org/10.4103/0971-6866.124385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897152PMC
October 2013
5 Reads

A case report of ectopia cordis and omphalocele.

Indian J Hum Genet 2013 Oct;19(4):491-3

Department of Pediatrics, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra, India.

A rare congenital defect in fusion of the anterior chest wall resulting in an extrathoracic location of the heart. Cantrell's pentalogy is a congenital anomaly resulting from embryologic development defect and consists of the following: A deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, congenital intracardiac abnormalities, and a defect of the lower sternum. Here we report a rare case of ectopic cordis with omphalocele. Read More

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http://dx.doi.org/10.4103/0971-6866.124384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897151PMC
October 2013
4 Reads

Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India.

Indian J Hum Genet 2013 Oct;19(4):487-90

Department of Dermatology, M.V. Jayaraman Medical College and Research Hospital, Hoskote, Bangalore, Karnataka, India.

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis reported initially and mainly in Japan. However, subsequent cases have been reported from other countries. We report a case of DUH in a south Indian woman with a positive family history with cosmetic disfigurement and severe psychological impairment. Read More

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http://dx.doi.org/10.4103/0971-6866.124383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897150PMC
October 2013
3 Reads

An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges.

Indian J Hum Genet 2013 Oct;19(4):483-6

Department of Hospital Medicine, WellStar Health System, Douglasville, Georgia, USA ; Genomic Medicine Consultants, Decatur, GA, USA, The research reflects work done while at Emory University.

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder that shows large phenotypical variability, ranging from no symptoms to intellectual disability, motor retardation, and convulsions. In addition, homozygous and heterozygous mutation carriers can develop severe 5-fluorouracil (5-FU) toxicity. The lack of genotype-phenotype correlation and the possibility of other factors playing a role in the manifestation of the neurological abnormalities, make the management and education of asymptomatic DPD individuals more challenging. Read More

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http://dx.doi.org/10.4103/0971-6866.124382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897149PMC
October 2013
3 Reads

Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases.

Indian J Hum Genet 2013 Oct;19(4):479-82

Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.

Cation exchange high performance liquid chromatography (CE HPLC) provides an excellent tool for accurate and reliable diagnosis of various hemoglobin (Hb) disorders. HbQ India is a rare alpha chain variant that usually presents in the heterozygous state. Its presence in double heterozygous state with HbD Punjab is extremely rare. Read More

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http://dx.doi.org/10.4103/0971-6866.124381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897148PMC
October 2013
5 Reads
4 Citations

Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling.

Indian J Hum Genet 2013 Oct;19(4):475-8

Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Camp, Pune, Maharashtra, India.

Familial isolated growth hormone deficiency (GHD) type 1 is characterized by an autosomal recessive pattern of inheritance with varying degrees of phenotypic severity. We report a proband, with isolated GHD (IGHD) with very early growth arrest and undetectable levels of GH. Homozygous complete deletion of the GH1 gene was identified by real-time/quantitative polymerase chain reaction (RT/q-PCR) and confirmed by an independent molecular genetic method; the multiplex ligation-dependent probe amplification (MLPA) technique. Read More

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http://dx.doi.org/10.4103/0971-6866.124380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897147PMC
October 2013
4 Reads

Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis.

Indian J Hum Genet 2013 Oct;19(4):472-4

Department of Pediatrics, Assiut University, Assiut, Egypt.

A romatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by prepubertal gynecomastia, it responds well to medical treatment. In the absence of prompt suspicion, it can expose the patient to the risk of unnecessary surgical intervention. Up to our best knowledge, the association between AEXS and neurofibromatosis type 1 (NF1) was not reported before. Read More

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http://dx.doi.org/10.4103/0971-6866.124379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897146PMC
October 2013
18 Reads

A rare anomaly of the foot presented as polydactyly.

Indian J Hum Genet 2013 Oct;19(4):469-71

Department of Surgery, Maharishi Markandeshwer Institute of Medical Sciences and Research, Mullana, Ambala, Haryana, India.

Presence of one or more digit is called as polydactyly and may manifest singly or with other genetic disorders. The frequency of polydactyly varies widely among populations. It can occur as an isolated condition or as a feature of a congenital condition. Read More

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http://dx.doi.org/10.4103/0971-6866.124378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897145PMC
October 2013
4 Reads