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Deletion 2p15–16.1 syndrome: Case report and review

✍ Scribed by Paolo Prontera; Laura Bernardini; Gabriela Stangoni; Anna Capalbo; Daniela Rogaia; Rita Romani; Carmela Ardisia; Bruno Dallapiccola; Emilio Donti

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
253 KB
Volume
155
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

We report on a 9‐year‐old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced translocation between chromosome 1 and 7, involving the same inverted chromosome 7, detected by standard cytogenetic analysis [46,XX, der(7) inv(7)(q21.1q32.1)t(1;7)(q23q32.1)]; and a 2p16.1 deletion, spanning about 3.5 Mb of genomic DNA, shown by SNP‐array analysis [arr 2p16.1 (56,706,666–60,234,485)x1 dn]. Clinical features and cytogenetic imbalance in our patient were similar to those reported in five published cases, suggesting that this genomic region is prone to recombination and its hemizygosity results in a distinct although variable spectrum of clinical manifestations. © 2011 Wiley‐Liss, Inc.

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