A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome

European Journal of Human Genetics : EJHG
M ZollinoG Neri

Abstract

A total of five Wolf-Hirschhorn syndrome (WHS) patient with a 4p16.3 de novo microdeletion was referred because of genotype-phenotype inconsistencies, first explained as phenotypic variability of the WHS. The actual deletion size was found to be about 12 Mb in three patients, 5 Mb in another one and 20 Mb in the last one, leading us to hypothesize the presence of an extrachromosome segment on the deleted 4p. A der(4)(4qter --> p16.1::8p23 --> pter) chromosome, resulting from an unbalanced de novo translocation was, in fact, detected in four patients and a der(4)(4qter --> q32::4p15.3 --> qter) in the last. Unbalanced t(4;8) translocations were maternal in origin, the rec(4p;4q) was paternal. With the purpose of verifying frequency and specificity of this phenomenon, we investigated yet another group of 20 WHS patients with de novo large deletions (n = 13) or microdeletions (n = 7) and with apparently straightforward genotype-phenotype correlations. The rearrangement was paternal in origin, and occurred as a single anomaly in 19 out of 20 patients. In the remaining patient, the deleted chromosome 4 was maternally derived and consisted of a der(4)(4qter --> 4p16.3::8p23 --> 8pter). In conclusions, we observed that 20% (5/25) of d...Continue Reading

References

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Citations

Dec 15, 2010·European Journal of Human Genetics : EJHG·Agatino BattagliaJohn C Carey
Jul 28, 2011·European Journal of Human Genetics : EJHG·Peter HammondOliver Quarrell
Jul 20, 2007·European Journal of Human Genetics : EJHG·Klara Flipsen-ten BergMartin Poot
Aug 30, 2007·European Journal of Human Genetics : EJHG·Sarah T SouthArthur R Brothman
Dec 25, 2004·Clinical Genetics·A G W HunterC E Schwartz
Oct 22, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Marcella ZollinoGiovanni Neri
Jul 12, 2011·American Journal of Medical Genetics. Part a·Piotr S IwanowskiAlina T Midro
Feb 25, 2006·Epilepsy & Behavior : E&B·Melodie R Winawer
Feb 14, 2006·European Journal of Medical Genetics·Izabela LaczmanskaMaria Sasiadek
Oct 6, 2006·Birth Defects Research. Part A, Clinical and Molecular Teratology·Angel ChaoShuenn-Dyh Chang
Apr 28, 2010·Language, Speech, and Hearing Services in Schools·Althea T Marshall
Dec 14, 2007·American Journal of Medical Genetics. Part a·Sherly PardoKurt Hirschhorn
Dec 2, 2017·American Journal of Medical Genetics. Part a·Antonio GattoGiuseppe Zampino
Feb 24, 2012·Revista brasileira de cirurgia cardiovascular : órgão oficial da Sociedade Brasileira de Cirurgia Cardiovascular·Shi-Min Yuan, Leonid Sternik
Nov 21, 2020·Molecular Genetics & Genomic Medicine·Mona K MekkawyMona O El Ruby

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