Clinical and molecular cytogenetic studies in ring chromosome 5: Report of a child with congenital abnormalities

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• 作者：Audrey Basinko^a ; ^b ; ^c ; Maria Luisa Giovannucci Uzielli^d ; Gloria Scarselli^d ; Manuela Priolo^e ; Giuseppina Timpani^f ; Marc De Braekeleer^a ; ^b ; ^c ; ^{marc.debraekeleer@univ-brest.fr}
• 关键词：Chromosome 5 ; Ring chromosome ; &ldquo ; Cri du chat&rdquo ; phenotype ; Congenital abnormalities
• 刊名：European Journal of Medical Genetics
• 出版年：2012
• 出版时间：February, 2012
• 年：2012
• 卷：55
• 期：2
• 页码：112-116
• 全文大小：327 K

文摘

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.