A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5

BMC Medical Genetics

Case Report

Andreja Zagorac¹  Ana Blatnik¹  Danijela Krgovic¹  Nadja Kokalj Vokac²  Ante Burmas³ 

[1] Laboratory of Medical Genetics, University Clinical Centre Maribor, Ljubljanska Street 5, 2000, Maribor, Slovenia;Laboratory of Medical Genetics, University Clinical Centre Maribor, Ljubljanska Street 5, 2000, Maribor, Slovenia;Faculty of Medicine, University of Maribor, Slomškov trg 15, 2000, Maribor, Slovenia;Paediatric Clinics, University Clinical Centre Maribor, Ljubljanska Street 5, 2000, Maribor, Slovenia;

关键词: Deletion with inverted duplication of 5p;    Cri-du-chat syndrome;    Trisomy 5p;    Cat-like cry;    Ear agenesis;   

DOI  :  10.1186/1471-2350-15-21

 received in 2013-04-18, accepted in 2014-02-06,  发布年份 2014

来源: Springer

【 摘 要 】

BackgroundRearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) and Trisomy 5p, caused by a deletion and duplication, respectively. The 5p15.2 has been defined as a critical region for CdC syndrome; however, genotype-phenotype studies allowed isolation of particular characteristics such as speech delay, cat-like cry and mental retardation, caused by distinct deletions of 5p. A varied clinical outcome was also observed in patients with Trisomy 5p. Duplications of 5p10-5p13.1 manifest themselves in a more severe phenotype, while trisomy of regions distal to 5p13 mainly causes mild and indistinct features. Combinations of a terminal deletion and inverted duplication of 5p are infrequent in literature. Consequences of these chromosomal rearrangements differ, depending on size of deletion and duplication in particular cases, although authors mainly describe the deletion as the cause of the observed clinical picture.Case presentationHere we present a 5-month-old Slovenian girl, with de novo terminal deletion and inverted duplication of chromosome 5p. Our patient presents features of both CdC and Trisomy 5. The most prominent features observed in our patient are a cat-like cry and severe malformations of the right ear.ConclusionThe cat-like cry, characteristic of CdC syndrome, is noted in our patient despite the fact that the deletion is not fully consistent with previously defined cat-like cry critical region in this syndrome. Features like dolichocephaly, macrocephaly and ear malformations, associated with duplication of the critical region of Trisomy 5p, are also present, although this region has not been rearranged in our case. Therefore, the true meaning of the described chromosomal rearrangements is discussed.

【 授权许可】

Unknown   
© Krgovic et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.