Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

Mol Genet Genomic Med 2019 Oct 27;7(10):e00939. Epub 2019 Aug 27.

Department of Medical Genetics, Women Mothers and Children's Hospital, Lyon Hospices Civils, Lyon, France.

Background: Pallister-Killian syndrome (PKS) is a rare sporadic disorder caused by tetrasomy of the short arm of chromosome 12. The main clinical manifestations are global developmental delay, intellectual disability, epilepsy, dysmorphic features, hypopigmented and/or hyperpigmented lesions, and multiple congenital anomalies. PKS is associated with tissue mosaicism, which is difficult to diagnose through peripheral blood sample by conventional cytogenetic methods and fluorescence in situ hybridization.

Methods: Here, we report five patients with PKS. We delineate their clinical phenotypes and we compare them with previously published cases. We used array Comparative Genomic Hybridization (aCGH) with DNA extracted from peripheral blood samples. The five patients have also been tested by conventional cytogenetics techniques.

Results: Four out of five patients showed tetrasomy 12p by aCGH. Three of the four patients have typical i(12p) and one of the four demonstrated atypical tetrasomy 12p. The percentage of mosaicism was as low as 20%. Our cohort exhibited the typical PKS phenotypes.

Conclusion: Our results demonstrate the efficacy of aCGH for the diagnosis of PKS from DNA extracted from lymphocytes. Thus, for patients suspected of PKS, we recommend performing aCGH on lymphocytes at an early age before  proceeding to skin biopsy. aCGH on peripheral blood samples is sensitive in detecting low level of mosaicism and it is less invasive method than skin biopsy. We reviewed also the literature concerning the previously published PKS patients diagnosed by aCGH.

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.939DOI Listing
October 2019
1 Read

Publication Analysis

Top Keywords

tetrasomy 12p
12
peripheral blood
12
dna extracted
8
blood samples
8
pallister-killian syndrome
8
patients
7
pks
7
acgh
6
delineate clinical
4
pks delineate
4
recommend performing
4
hybridizationmethods report
4
report patients
4
patients pks
4
clinical phenotypes
4
phenotypes compare
4
suspected pks
4
array comparative
4
cases array
4
published cases
4

References

(Supplied by CrossRef)
A human skin culture technique used for cytological examinations
Harnden D. G. et al.
British Journal of Experimental Pathology 1960

Similar Publications