1,860 results match your criteria Annales de genetique[Journal]


Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Ann Genet 2004 Oct-Dec;47(4):429-32

We have found a high correlation of non-random bending of human metaphase chromosome 12 with the intranuclear arrangement deduced by Nogami et al. (Chromosoma 108 (2000) 514), providing further evidence of the relation of non-random bending and the interphase organization of the nucleus. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.07.002DOI Listing

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Ann Genet 2004 Oct-Dec;47(4):423-7

Groupe Hospitalier Pitié-Salpêtrière, Service d'Hématologie Biologique, Paris, France.

A case of de novo acute myeloblastic leukemia (AML) M2, with trisomy 4 and double minute (dmin) chromosomes is reported. Amplification of the MYC gene ascertained by FISH was associated with dmin. A review of the literature of trisomy 4-dmin-associated AML shows that this entity preferentially occurs in elderly women and is not always associated with previously identified exposition to mutagens. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.08.004DOI Listing
May 2005
19 Reads

Large duplication 4q25-q34 with mild clinical effect.

Ann Genet 2004 Oct-Dec;47(4):419-22

Service de Cytogénétique et de Biologie de la Reproduction, Hôpital Farhat Hached, Sousse, Tunisia.

We report on a 5-year-old Tunisian boy with particular dysmorphic features and mild mental retardation limited in delayed and poor language acquisition. Cytogenetic analysis using RHG banding and FISH using whole chromosome four painting probe showed a partial duplication in the long arm of chromosome four. Locus specific probes and CGH confirmed the presence of a ''pure'' partial trisomy 4q due to de novo direct tandem dup(4)(q25q34). Read More

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http://dx.doi.org/10.1016/j.anngen.2004.07.007DOI Listing

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Ann Genet 2004 Oct-Dec;47(4):405-17

Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambéry cedex, France.

Reaching an accurate diagnosis in children with mental retardation associated or not with dysmorphic signs is important to make precise diagnosis of a syndrome and for genetic counseling. A female case with severe growth and development delay, dysmorphic features and feeding disorder is presented. Antenataly, the fetus was observed to have increased nuchal translucency and a slight hypoplastic cerebellum. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.07.005DOI Listing

Partial trisomy 8q and partial monosomy 18p: a case report.

Ann Genet 2004 Oct-Dec;47(4):399-403

Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, NJ, USA.

We report clinical observations and cytogenetic studies of an inherited partial trisomy 8q and partial monosomy 18p. A full trisomy 8 syndrome (Warkany syndrome) is a clinically recognized syndrome. Partial trisomy 8q has been reported sporadically in the literature with variable phenotypes. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.07.004DOI Listing
May 2005
2 Reads

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Ann Genet 2004 Oct-Dec;47(4):393-8

Department of Medical Biology and Genetics, School of Medicine, Pamukkale University, Kinikli/Denizli 20020, Turkey.

This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation of chromosomes 15 and 18 displaying the features of pure trisomy. This is the first reported case with partial trisomy 18q due to unbalanced translocation between chromosomes 15 and 18. Clinical findings of our case have been compared with the reported cases' had partial trisomy 18q and the importance to recognize the cases with chromosome abnormalities to give genetic counseling and prenatal diagnosis for subsequent pregnancies has emphasized. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.03.009DOI Listing
May 2005
11 Reads

Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case.

Ann Genet 2004 Oct-Dec;47(4):387-91

Department of Pediatrics, School of Medicine, Atatürk University, Erzurum, Turkey.

The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature. We present a 35-day-old patient with the classical signs except cutaneous atrophy, additionally he had a healing fracture at the proximal part of the left radius. Read More

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http://linkinghub.elsevier.com/retrieve/pii/S000339950400036
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http://dx.doi.org/10.1016/j.anngen.2004.03.005DOI Listing
May 2005
10 Reads

Isolated congenital anonychia cases with coincident chromosomal fragility.

Ann Genet 2004 Oct-Dec;47(4):381-6

Department of Plastic and Reconstructive Surgery, Faculty of Medicine, Erciyes University, Melikgazi, Kayseri 38039, Turkey.

Isolated anonychia without any associated phenotypical disturbances is one of the rarest anomalies of congenital nail disorders. Some or all fingers of the hands or feet could be affected. Anonychia can be encountered in dermatologic disorders like pemphigus, lichen planus, epidermolysis bullosa; it can also be seen as a component of some syndromes like Nail-Patella and Cooks syndromes. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.03.004DOI Listing
May 2005
37 Reads

Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: experience from 19 European registers.

Ann Genet 2004 Oct-Dec;47(4):373-80

Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK.

The objective of this study was to evaluate the contribution of ultrasound scanning to the prenatal detection of trisomy 21 in a large unselected European population. Data from 19 congenital malformation registers in 11 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.09.005DOI Listing

Cryptic translocations involving chromosome 20 in polycythemia vera.

Ann Genet 2004 Oct-Dec;47(4):365-71

Inserm EMI 0210, Tour Pasteur, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France.

A systematic cytogenetic study was performed in 49 patients with polycythemia vera (PV) in order to investigate the occurrence of subtelomeric rearrangements of chromosome 20, the most frequently rearranged chromosome in this myeloproliferative disorder. Partial deletion of the long arm of chromosome 20 was observed in two patients and two cryptic translocations, t(1;20)(p36;q13) and t(18;20)(p11;q13) in two others, all previously treated. The localization of the breakpoints of the translocated 20 chromosomes was different in the two translocations, as shown by fluorescence in situ hybridization (FISH) to metaphase chromosomes using BAC clones. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.08.003DOI Listing
May 2005
5 Reads

Genotypic analysis of the TGF beta-509 allele in patients with systemic lupus erythematosus and Sjogren's syndrome.

Ann Genet 2004 Oct-Dec;47(4):359-63

Department of Anatomy and Physiology, Wright State University School of Medicine, 3640 Colonel Glenn Highway, 042 Biological Sciences Building, Dayton, OH 45435, USA.

Transforming growth factor beta (TGFbeta) is a secreted protein present in the circulation and is a critical regulator of the body's immune system. TGFbeta is believed to control several components of the immune system and inhibit autoimmune reactions. Systemic lupus erythematosus (SLE) and Sjogren's syndrome (SS) are prototypical human autoimmune diseases characterized by the circulating autoantibodies directed against nuclear antigens and immune complex deposition in various tissues leading to target organ inflammation and damage. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.07.003DOI Listing

The peptide nucleic acids (PNAs): a new generation of probes for genetic and cytogenetic analyses.

Ann Genet 2004 Oct-Dec;47(4):349-58

Centre of Assisted Reproduction and Reproductive Genetics, Institute of Biology and Medical Genetics, Motol Hospital, V uvalu 84, 150 06 Prague 5, Czech Republic.

Peptide nucleic acids (PNAs) are synthetic homologs of nucleic acids in which the phosphate-sugar polynucleotide backbone is replaced by a flexible pseudo-peptide polymer to which the nucleobases are linked. This structure gives PNAs the capacity to hybridize with high affinity and specificity to complementary sequences of DNA and RNA, and also confers remarkable resistance to DNAses and proteinases. The unique physico-chemical characteristics of PNAs have led to the development of a wide range of biological assays. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.07.001DOI Listing
May 2005
4 Reads

DNA polymorphism analysis of candidate genes for type 2 diabetes mellitus in a Mexican ethnic group.

Ann Genet 2004 Oct-Dec;47(4):339-48

División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Colonia Independencia, C.P. 44340 Guadalajara, Jalisco, México.

Type 2 diabetes mellitus is a complex metabolic disorder resulting from the action and interaction of many genetic and environmental factors. It has been reported that polymorphisms in genes involved in the metabolism of glucose are associated with the susceptibility to develop type 2 diabetes mellitus. Although the risk of developing type 2 diabetes mellitus increases with age, as well as with obesity and hypertension, its prevalence and incidence are different among geographical regions and ethnic groups. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.05.004DOI Listing

Y chromosome micro-deletions in idiopathic infertility from Northern India.

Ann Genet 2004 Oct-Dec;47(4):331-7

Department of Urology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India.

Azoospermia factor locus (AZF) is assumed to contain the genes responsible for spermatogenesis. Deletions in these genes are thought to be pathologically involved in some cases of male infertility associated with azoospermia or oligozoospermia. An attempt was made to establish the prevalence of micro-deletions on the Y chromosome in 79 infertile North Indians with azoospermia and oligozoospermia. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.05.003DOI Listing
May 2005
2 Reads

Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population.

Ann Genet 2004 Oct-Dec;47(4):325-30

National Blood Transfusion Centre, Rue Djebel Lakdhar Bab Saadoun, 1006 Tunis, Tunisia.

The studies of the HFE mutations: H63D and C282Y in North African populations have revealed the extreme rarity or even the absence of the C282Y mutation. We have examined 1140 chromosomes (570 Tunisian people) for the presence of the two HFE mutations by PCR-RFLP analysis. We have found that the allele frequencies are, respectively, 15. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.05.001DOI Listing
May 2005
9 Reads

Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases.

Ann Genet 2004 Jul-Sep;47(3):315-24

Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambéry cedex, France.

Balanced complex chromosomal rearrangements (BCCR) encompass a heterogeneous group of rare chromosomal aberrations. In this paper, we report three cases of BCCRs. In two the probands were referred for either genetic counseling or prenatal management. Read More

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http://linkinghub.elsevier.com/retrieve/pii/S000339950400042
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http://dx.doi.org/10.1016/j.anngen.2004.05.002DOI Listing
October 2004
4 Reads

Turner syndrome female with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis.

Ann Genet 2004 Jul-Sep;47(3):305-13

Laboratoire d'Histologie Embryologie, Faculté de Médecine de Sfax, avenue Magida Boulila, Sfax CP 3028, Tunisia.

Rearranged X chromosome in Turner syndrome (TS) are generally well tolerated but in cases of ring X chromosomes and of X/autosome translocations the incidence of mental retardation and other congenital abnormalities can be significantly higher. These abnormal phenotypes can be ascribed to failed or partial X inactivation. Here, we report a 10-year-old female who was referred for a cytogenetic analysis because she developed an alopecia universalis. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.03.008DOI Listing
October 2004
1 Read

Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18.

Ann Genet 2004 Jul-Sep;47(3):297-303

Diagnostics Division, Center for DNA Fingerprinting & Diagnostics, 7-18, ECIL Road, Nacharam, Hyderabad 500076, India.

We report a recurrent partial monosomy of 18p10-->11.2 and proximal partial trisomy of 18q10-->21.3 caused by a maternal pericentric inversion of chromosome 18, involving breakpoints p11. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.03.007DOI Listing
October 2004
1 Read

Inherited ring chromosome 8 without loss of subtelomeric sequences.

Ann Genet 2004 Jul-Sep;47(3):289-96

Service de Génétique Médicale, Plateau Technique, Centre Hospitalo-Universitaire, 9, quai Moncousu, 44093 Nantes cedex, France.

We report the first case of inherited ring chromosome 8 syndrome without loss of subtelomeric sequences. The proband is a 6 1/2-year-old boy with short stature, microcephaly, mild mental retardation, and behavioral problems including hyperactivity and attention deficit. His mother presented the same physical features but intelligence was normal. Read More

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http://dx.doi.org/10.1016/j.anngen.2003.10.005DOI Listing
October 2004
29 Reads

Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.

Ann Genet 2004 Jul-Sep;47(3):281-7

Neurological Institute C. Mondino Foundation, Via Ferrata, 6 27100 Pavia, Italy.

Chromosome 10p terminal deletions have been associated with a DiGeorge like phenotype. Haploinsufficiency of the region 10p14-pter, results in hypoparathyroidism, sensorineural deafness, renal anomaly, that is the triad that features the HDR syndrome. Van Esch (2000) identified in a HDR patient, within a 200 kb critical region, the GATA3 gene, a transcription factor involved in the embryonic development of the parathyroids, auditory system and kidneys. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.03.001DOI Listing
October 2004
1 Read

A familial complex chromosome translocation resulting in duplication of 6p25.

Ann Genet 2004 Jul-Sep;47(3):275-80

Center for Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.

We report on a girl with psychomotor retardation, severe speech developmental delay and mild dysmorphic features. Molecular cytogenetic analysis showed that the patient was carrier of an insertion (6)(p22.5-->22. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.03.002DOI Listing
October 2004

Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).

Ann Genet 2004 Jul-Sep;47(3):267-73

Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

Prader-Willi syndrome (PWS) is a neurobehavioral disorder caused by deletions in the 15q11-q13 region, by maternal uniparental disomy of chromosome 15 or by imprinting defects. Structural rearrangements of chromosome 15 have been described in about 5% of the patients with typical or atypical PWS phenotype. An 8-year-old boy with a clinical diagnosis of PWS, severe neurodevelopmental delay, absence of speech and mental retardation was studied by cytogenetic and molecular techniques, and an unbalanced de novo karyotype 45,XY,der(4)t(4;15)(q35;q14),-15 was detected after GTG-banding. Read More

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http://linkinghub.elsevier.com/retrieve/pii/S000339950400008
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http://dx.doi.org/10.1016/j.anngen.2004.01.003DOI Listing
October 2004
11 Reads

A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features.

Ann Genet 2004 Jul-Sep;47(3):261-5

Department of Radiology, Osmangazi University Hospital Meselik, 26480 Eskisehir, Turkey.

Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth. Cerebral abnormalities might also be seen. We reported cerebral magnetic resonance imaging (MRI) findings of a case with M-CMTC, who had giant atrial septal aneurysm and atrial septal defect. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.03.003DOI Listing
October 2004
4 Reads

Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting.

Authors:
Dieter Kotzot

Ann Genet 2004 Jul-Sep;47(3):251-60

Institute of Medical Biology and Human Genetics, Medical University of Innsbruck, Schoepfstr. 41, A-6020 Innsbruck, Austria.

The phenotype of maternal uniparental disomy of chromosome 14 (upd(14)mat) is characterized by pre and postnatal growth retardation, early onset of puberty, joint laxity, motor delay, and minor dysmorphic features of the face, hands, and feet. Based on a clinical analysis of 24 cases extracted from the literature the phenotype of upd(14)mat was dissected with respect to each symptom's most likely primary causative: trisomy mosaicism, rare autosomal recessively inherited traits, and the impact of known imprinted genes located on chromosome 14q32. As a result, primary factors are confined placental mosaicism for prenatal growth retardation and one or more imprinted genes, which contribute to the reduced final height by accelerated skeletal maturation. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.03.006DOI Listing
October 2004
1 Read

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.

Ann Genet 2004 Jul-Sep;47(3):241-9

Service d'Histologie, Biologie de la Reproduction et Cytogénétique (UPMC-EA 1533), Hôpital Tenon (AP-HP), 75020 Paris, France.

Two new patients, mosaic for a small supernumerary ring chromosome 7 are described. There are only seven published reported concerning supernumerary ring chromosome 7 and we reviewed the previously reported cases in an attempt to establish genotype-phenotype correlations, which are particularly important for genetic counselling and clinical genetics. Our first case was a 20 months old girl who was referred for a mild motor developmental delay, an asymmetric facial appearance, a plagiocephaly and a short nose with anteverted nostrils. Read More

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http://linkinghub.elsevier.com/retrieve/pii/S000339950400005
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http://dx.doi.org/10.1016/j.anngen.2004.02.003DOI Listing
October 2004
10 Reads

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.

Ann Genet 2004 Jul-Sep;47(3):235-40

Laboratoire de Genetique Moleculaire, Departement de Genetique Medicale, Hôpital d'Enfants de la Timone, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France.

Microdeletion at the 22q11 locus is characterised by a high clinical variability. Congenital heart defects (CHD) are the most life-threatening manifestations of the syndrome and affect approximately 50% of patients carrying the deleted chromosome 22. The causes of this phenotype variability remain unknown although several hypotheses have been raised. Read More

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http://linkinghub.elsevier.com/retrieve/pii/S000339950400041
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http://dx.doi.org/10.1016/j.anngen.2004.04.002DOI Listing
October 2004
5 Reads

Auricular mild errors of morphogenesis: epidemiological analysis, local correlations and clinical significance.

Ann Genet 2004 Jul-Sep;47(3):225-34

Department of Neonatology, Bnei Zion Medical Center, 47, Golomb Street, Haifa 31048, Israel.

Background: The mild errors or morphogenesis (MEMs) are well known and accepted markers of alterations in embryonic development with predictive value in identification of major malformations, specific genetic syndromes, metabolic and psychiatric disease and childhood malignancy.

Objective: The goal of this study was to assess the contribution of auricular MEMs as part of total MEMs in an effort to study the factors influencing the different potential informative value of different types of MEMs and their variability with perinatal factors.

Method: Three thousand one hundred and seven consecutive born neonates were screened for auricular and non-auricular MEMs, inregistered concomitantly with major malformations and postural defects. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.02.007DOI Listing
October 2004
1 Read

Androgen receptor gene CAG repeats length in fertile and infertile Tunisian men.

Ann Genet 2004 Jul-Sep;47(3):217-24

Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine, Avenue Majida Boulila, 3028 Sfax, Tunisia.

Several reports implicated a relation between the trinucleotide (CAG) repeat length in the androgen receptor (AR) gene and male infertility. But such result was not reproduced in others. To test this hypothesis, we investigated the number of (CAG) repeats in the AR gene among two groups of infertile (n = 129) and fertile Tunisian men (n = 98), using polymerase chain reaction (PCR) targeting the AR CAG repeat tract, followed by electrophoresis on polyacrylamide gel (6%). Read More

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http://dx.doi.org/10.1016/j.anngen.2004.03.010DOI Listing
October 2004
1 Read

G-protein beta3 subunit gene C825T polymorphism in patients with vesico-ureteric reflux.

Ann Genet 2004 Jul-Sep;47(3):209-16

Laboratory of Medical Genetics, Maribor Teaching Hospital, Ljubljanska 5, 2000 Maribor, Slovenia.

The C825T polymorphism in the GNB3 gene encoding a beta3 subunit from heterotrimeric G-proteins correlates strongly with the variation in activity of the G-proteins. It has so far been associated with a variety of medical conditions, but has not been tested for association with vesico-ureteric reflux (VUR). Primary VUR is a condition of genetic origin that appears to be inherited in an autosomal dominant mode, but with reduced penetrance. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.04.003DOI Listing
October 2004
4 Reads

Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analyses.

Ann Genet 2004 Apr-Jun;47(2):199-205

New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.

A 30-year-old male patient with mild mental retardation was found to have a small supernumerary marker chromosome (SMC) in 90% of his peripheral blood cells and in 100% of his fibroblast cells. Multiplex whole chromosome and sub-telomere FISH analyses were used to determine that this SMC is an inverted duplicated distal chromosome 8p fragment. Although it was negative for alpha-DNA sequences, this marker had a functional kinetochore (neocentromere) demonstrated by a positive signal with a CENP-C antibody. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.02.005DOI Listing
October 2005

Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1)): case report and review of terminal 8p deletions.

Ann Genet 2004 Apr-Jun;47(2):191-7

Institut für Humangenetik, Rheinische Friedrich-Wilhelms-Universität, Bonn, Germany.

A boy with a rare unbalanced de novo Y/autosome translocation is presented. Main clinical features in the boy comprised a psychomotor delay, talipes planus, a dolichocephalus, low set and retroverted ears, supraorbital fullness of subcutaneous tissue and a bulbous nasal tip. Chromosomal analysis on amniocytes showed a single X chromosome and a derivative 8p (Karyotype: 45,X,der(8)GTG). Read More

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http://dx.doi.org/10.1016/j.anngen.2004.02.004DOI Listing
October 2005

Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome).

Ann Genet 2004 Apr-Jun;47(2):185-90

Laboratory of Cytogenetics, 2nd Department of Pediatrics, A.H.E.P.A. Hospital, School of Medicine, Aristotelian University of Thessaloniki, Thessaloniki, Greece.

46,XY pure gonadal dysgenesis, first described in 1955 by Swyer, results from testicular tissue loss during the first 8 weeks of fetal life, a critical period for male differentiation. We describe a case of an 18 years old patient presented to us with a chief complain of primary amenorrhea. Chromosomal analysis revealed a 46,XY karyotype. Read More

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http://dx.doi.org/10.1016/j.anngen.2003.08.022DOI Listing
October 2005
1 Read

Chromosome 22q11.2 microdeletion in a patient with hemophilia A.

Ann Genet 2004 Apr-Jun;47(2):181-4

Department of Pediatrics, Clinical Genetics Unit, Baskent University Faculty of Medicine, 6, Street Bahcelievler, 06490 Ankara, Turkey.

We report a 6-year-old patient with hemophilia A, who also exhibited clinical features typical of 22q11.2 deletion syndrome (22qDS). The specific traits were mild mental retardation, speech delay, hypernasal speech, deficits in voice quality and articulation, narrow palpebral fissures, broad and depressed nasal root, high-arched palate, microstomia, and overfolded ears. Read More

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http://dx.doi.org/10.1016/j.anngen.2003.11.001DOI Listing
October 2005

Prenatal diagnosis of an interstitial 12q chromosome deletion.

Ann Genet 2004 Apr-Jun;47(2):177-9

Departament de Citogenètica, General Lab Laboratori d'Anàlisi, C/ Londres, 45, Barcelona 08036, Spain.

Rearrangements involving long arm of chromosome 12 are rare events. To our knowledge, we present the first case of an interstitial deletion of the long arm of chromosome 12 in a prenatal diagnosis. A review of the literature is included in our report. Read More

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http://dx.doi.org/10.1016/j.anngen.2003.10.006DOI Listing
October 2005

Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome.

Ann Genet 2004 Apr-Jun;47(2):163-75

Laboratoire d'histologie, faculté de médecine de Sfax, avenue Magida-Boulila, CP 3028 Sfax, Tunisia.

A retrospective study was carried out in 152 infertile men to determine the prevalence of sex chromosome abnormalities among non-obstructive azoospermic and severe oligospermic men (n = 51) and to evaluate the feasibility of fluorescence in situ hybridization (FISH) techniques to assess mosaicism in Klinefelter's patients in comparison with conventional cytogenetics. Cytogenetic analysis were performed for 51 infertile men and among 14 chromosomal abnormalities found, nine were compatible with Klinefelter's syndrome. FISH staining with a CEP X/CEP Y probes were performed for Klinefelter's patients and for five of them; testes were biopsied for histopathologic examination. Read More

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http://dx.doi.org/10.1016/j.anngen.2003.08.024DOI Listing
October 2005
3 Reads

Genotype and allele frequency of PAI-1 promoter polymorphism in healthy subjects from the west of Mexico. Association with biochemical and hematological parameters.

Ann Genet 2004 Apr-Jun;47(2):155-62

Laboratorio de Inmunología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada Street No. 950, P.O. Box 2-1091, Guadalajara, Jalisco, Mexico, C.P. 44281, Mexico.

We investigated the genotype and allelic frequency of the -675 bp insertion/deletion polymorphism at the PAI-1 gene promoter, in healthy Mexican subjects. It was compared to the lipid profile and hematological parameters, and to other healthy worldwide populations. A Mexican population sample of 110 individuals was studied. Read More

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http://linkinghub.elsevier.com/retrieve/pii/S000339950300095
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http://dx.doi.org/10.1016/j.anngen.2003.12.001DOI Listing
October 2005
8 Reads

Apolipoprotein E gene polymorphism effects triglycerides but not CAD risk in Caucasian women younger than 65 years.

Ann Genet 2004 Apr-Jun;47(2):147-53

Department of Internal Medicine, General Hospital Ptuj, Slovenia.

The pathogenesis of CAD is similar in man and woman, yet some risk factors have a greater impact on the CAD risk in woman than in man. In this study we assessed the effect of the apoE gene polymorphism on lipid metabolism and risk for CAD in women younger than 65 years (premature CAD). In a cross-sectional case-control study, 147 female Caucasian patients with premature CAD (confirmed by coronarography) were compared with a control group of 114 healthy Caucasian women. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.01.002DOI Listing
October 2005

Genealogical study of myotonic dystrophy in Istria (Croatia).

Ann Genet 2004 Apr-Jun;47(2):139-46

Division of medical genetics, department of obstetrics and gynaecology, medical centre, Ljubljana, Slovenia.

High prevalence of myotonic dystrophy (DM) of 18.1 per 100,000 has been found in Croatian region Istria, a region where a great mixture of nations occurred over the last three centuries. The objective of this study was to test the hypothesis of common ancestry in Istrian DM families. Read More

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http://dx.doi.org/10.1016/j.anngen.2003.08.026DOI Listing
October 2005

Consanguineous marriages in the province of Antalya, Turkey.

Ann Genet 2004 Apr-Jun;47(2):129-38

Department of Medical Genetics, School of Medicine, Akdeniz University, Antalya 07070, Turkey.

To assess the trends in the frequency and the medical effects of consanguinity in the south coast of Turkish population using local and national data in the last 11 years. This cross-sectional study was carried out in Manavgat province, which is a major tourism center on the Mediterranean coast of Turkey. The authors studied consanguineous marriages in rural and urban population in the Mediterranean coast, Manavgat province, Turkey, via a 1500 random survey sample of married couples. Read More

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http://dx.doi.org/10.1016/j.anngen.2003.09.001DOI Listing
October 2005
3 Reads
10 Citations

A novel promoter polymorphism (-71C>T) in KRTHB6 gene in Indian population.

Ann Genet 2004 Apr-Jun;47(2):125-7

National Centre of Applied Human Genetics, Human Genetics Section, School of Life Sciences, Jawaharlal Nehru University, New Delhi-110067, India.

We have screened the basal promoter region, of KRTHB6 gene involving CAAT and TATA boxes in randomly selected 125 individuals of Indian origin by PCR-SSCP and DNA sequencing. We observed a novel promoter polymorphism (-71C>T) which could be differentiated by using LweI restriction enzyme. The frequency of -71 C allele, allele A (Accession no AY203963), was observed to be higher ( 0. Read More

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http://dx.doi.org/10.1016/j.anngen.2004.02.006DOI Listing
October 2005
1 Read

Meiotic studies of infertile men in case of non-obstructive azoospermia with normal karyotype and no microdeleted Y-chromosome precise the clinical couple management.

Ann Genet 2004 Apr-Jun;47(2):113-23

Service d'Histologie Embryologie, Cytogénétique et Anatomie Pathologique, Hôpital Saint Vincent de Paul, 82, avenue Denfert-Rochereau, 75674 Paris 14, France.

To identify meiotic criteria for infertility management in non-obstructive azoospermic men, a prospective and multicentric study was organized in Andrological Departments of Paris (France), Roma (Italy) and Budapest (Hungary). In 117 non-obstructive azoospermic men with normal karyotype and no Y-chromosome microdeletion, histology and meiotic studies on bilateral bipolar testicular biopsies were done. Histologically, 40 patients (34%) presented spermatocyte or spermatid arrest, 39 (33%) hypospermatogenesis whereas no meiotic cell could be observed in the remaining patients (33%). Read More

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http://dx.doi.org/10.1016/j.anngen.2003.10.003DOI Listing
October 2005

Chromosome imbalances in oligodendroglial tumors detected by comparative genomic hybridization.

Ann Genet 2004 Apr-Jun;47(2):105-11

Laboratoire de Génétique-EA3441, CHU Nancy-Brabois, avenue du Morvan, 54111 Vandoeuvre les Nancy, France.

Seven well-differentiated oligodendrogliomas, 16 anaplastic oligodendrogliomas and two cases of oligoastrocytomas were investigated by comparative genomic hybridization (CGH) on frozen tissue samples. The most frequent losses found involved 1p and 19q in 32% of cases. Loss of 9p was observed during malignant progression in 25% of anaplastic oligodendrogliomas. Read More

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http://linkinghub.elsevier.com/retrieve/pii/S000339950300076
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http://dx.doi.org/10.1016/j.anngen.2003.10.002DOI Listing
October 2005
6 Reads

Vascular Ehlers-Danlos syndrome.

Ann Genet 2004 Jan-Mar;47(1):1-9

Clinical Genetics Unit, Hôpital Européen Georges-Pompidou, 20, rue Leblanc, 75015, Paris, France.

Vascular Ehlers-Danlos syndrome, also known as Ehlers-Danlos syndrome type IV, is a life-threatening inherited disorder of connective tissue, resulting from mutations in the COL3A1 gene coding for type III procollagen. Vascular EDS causes severe fragility of connective tissues with arterial and gastrointestinal rupture, and complications of surgical and radiological interventions. As for many rare orphan diseases, delay in diagnosis is common, even when the clinical features are typical, leading to inadequate or inappropriate treatment and management. Read More

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December 2004
8 Reads
20 Citations

Double trisomy (48,XXY,+21) in monozygotic twins: case report and review of the literature.

Ann Genet 2004 Jan-Mar;47(1):95-8

Laboratory of Cytogenetics, 2nd Department of Pediatrics, A.H.E.P.A. Hospital, School of Medicine, Aristotelian University of Thessaloniki, Thessaloniki, Greece.

The occurrence of double aneuploidy in the same individual is a relatively rare phenomenon. We describe twin newborns with typical clinical features of Down's syndrome, of which one revealed 48,XXY,+21 GTG-band karyotype. The second newborn died 2 days after its birth, and was clinically diagnosed having Down syndrome. Read More

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http://dx.doi.org/10.1016/j.anngen.2003.08.025DOI Listing
December 2004
1 Read

Topology of constitutional reciprocal translocations in metaphase.

Ann Genet 2004 Jan-Mar;47(1):85-93

División de Genética, Instituto Mexicano del Seguro Social, Apdo. Postal 1-3838, Guadalajara, Jalisco 44280, Mexico.

We studied in 39 carriers of 26 reciprocal translocations (including five de novo and seven of indeterminate occurrence) the metaphase localization of the derivative chromosomes, their normal non-homologous counterparts (here called A and B), and two control pairs (C and D). In eight familial translocations, we analysed two to five carriers. We digitally captured 10 G-banded lymphocyte metaphases per individual and measured in microns the largest diameter (d) of the metaphase and six intercentromeric distances: (1) der A<-->der B (problem distance 1, pd1), (2) der A<-->B (pd2), (3) der B<-->A (pd3), (4) A<-->B (control distance 1, cd1), (5) the smaller distance between C and D (cd2) and (6) the largest distance between C and D (cd3); in addition, the average between C and D (cd4) was calculated. Read More

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http://dx.doi.org/10.1016/S0003-3995(03)00033-9DOI Listing
December 2004
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A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin.

Ann Genet 2004 Jan-Mar;47(1):77-84

Department of Dermatology, Lok Nayak Hospital, New Delhi 110002, India.

We investigated 21 affected individuals in two unrelated monilethrix families of Indian origin and identified point mutation (g.4624G>A) in the HTM motif (exon-7) of the KRTHB6 gene in all the affected members leading to E413K change in this basic keratin. The HTM motif of KRTHB1, however, showed previously unreported two allelic variants, one with three novel variations (SNPs) in cis: g. Read More

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http://dx.doi.org/10.1016/j.anngen.2003.07.003DOI Listing
December 2004
3 Reads

Awareness of folic acid for prevention of neural tube defects in a community with high prevalence of consanguineous marriages.

Ann Genet 2004 Jan-Mar;47(1):69-75

The Bridge to Peace Community Pediatric Center, P.O. Box 27, Taibe 40400, Israel.

Neural tube defects (NTDs) are severe congenital malformations and can be fatal. Intake of 0.4 mg folic in the periconceptional period reduces the risk of NTD by 50-70%. Read More

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http://dx.doi.org/10.1016/j.anngen.2003.08.023DOI Listing
December 2004

AZF microdeletions on the Y chromosome of infertile men from Turkey.

Ann Genet 2004 Jan-Mar;47(1):61-8

Department of Medical Genetics, School of Medicine, Akdeniz University, Antalya 07070, Turkey.

Intervals V and VI of Yq11.23 regions contain responsible genes for spermatogenesis, and are named as "azoospermia factor locus" (AZF). Deletions in these genes are thought to be pathogenetically involved in some cases of male infertility associated with azoospermia or oligozoospermia. Read More

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http://dx.doi.org/10.1016/j.anngen.2003.09.002DOI Listing
December 2004
3 Reads