Basinko Audrey, Giovannucci Uzielli Maria Luisa, Scarselli Gloria, Priolo Manuela, Timpani Giuseppina, De Braekeleer Marc
Laboratoire d'Histologie, Cytologie et Cytogénétique, Faculté de Médecine et des Sciences de Santé, Université de Bretagne Occidentale, 22, Avenue Camille Desmoulins, CS 93837, F-29238 Brest cedex 3, France.
Eur J Med Genet. 2012 Feb;55(2):112-6. doi: 10.1016/j.ejmg.2011.11.005. Epub 2011 Dec 2.
We report here a child with a ring chromosome 5 (r(5)) associated with facial dysmorphology and multiple congenital abnormalities. Fluorescent in situ hybridization (FISH) using bacterial artificial chromosome (BAC) clones was performed to determine the breakpoints involved in the r(5). The 5p deletion extended from 5p13.2-3 to 5pter and measured 34.61 Mb (range: 33.7-35.52 Mb) while the 5q deletion extended from 5q35.3 to 5qter and measured 2.44 Mb (range: 2.31-2.57 Mb). The patient presented signs such as microcephaly, hypertelorism, micrognathia and epicanthal folds, partially recalling those of a deletion of the short arm of chromosome 5 and the "cri-du-chat" syndrome. The most striking phenotypic features were the congenital heart abnormalities which have been frequently reported in deletions of the distal part of the long arm of chromosome 5 and in rings leading to a 5q35-5qter deletion. However, the NKX2-5 gene, which has been related to congenital heart defects, was not deleted in our patient, nor presumably to some other patients with 5q35.3-5qter deletion. We propose that VEGFR3, deleted in our patient, could be a candidate gene for the congenital heart abnormalities observed.
我们在此报告一名患有环状5号染色体（r(5)）的儿童，其伴有面部畸形和多种先天性异常。使用细菌人工染色体（BAC）克隆进行荧光原位杂交（FISH），以确定r(5)中涉及的断点。5p缺失从5p13.2 - 3延伸至5p末端，长度为34.61 Mb（范围：33.7 - 35.52 Mb），而5q缺失从5q35.3延伸至5q末端，长度为2.44 Mb（范围：2.31 - 2.57 Mb）。该患者表现出小头畸形、眼距增宽、小颌畸形和内眦赘皮等体征，部分类似于5号染色体短臂缺失和“猫叫综合征”的体征。最显著的表型特征是先天性心脏异常，这在5号染色体长臂远端缺失以及导致5q35 - 5q末端缺失的环状染色体病例中经常有报道。然而，与先天性心脏缺陷相关的NKX2 - 5基因在我们的患者中未缺失，据推测在其他一些5q35.3 - 5q末端缺失的患者中也未缺失。我们提出，在我们患者中缺失的VEGFR3可能是所观察到的先天性心脏异常的候选基因。
