Elmakky Amira, Carli Diana, Lugli Licia, Torelli Paola, Guidi Battista, Falcinelli Cristina, Fini Sergio, Ferrari Fabrizio, Percesepe Antonio
Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy.
Neonatal Intensive Care Unit, Department of Mother and Child, University Hospital of Modena, Italy.
Eur J Med Genet. 2014 Mar;57(4):145-50. doi: 10.1016/j.ejmg.2014.02.005. Epub 2014 Feb 18.
Cri du chat syndrome is characterized by cat-like cry, facial dysmorphisms, microcephaly, speech delay, intellectual disability and slow growth rate, which are present with variable frequency. The typical cri du chat syndrome, due to 5p15.2 deletion, includes severe intellectual disability, facial dysmorphisms, neonatal hypotonia and pre- and post-natal growth retardation, whereas more distal deletions in 5p15.3 lead to cat-like cry and speech delay and produce the clinical picture of the atypical cri du chat syndrome, with minimal or absent intellectual impairment. In this article we report a three-generation family with an unbalanced whole arm translocation between chromosome 5 and 15 and a microdeletion of 5.5 Mb involving 5p15.33-32. By reporting the smallest terminal deletion of 5p15.3 described so far and by reviewing the literature we discuss the genotype/phenotype correlations of the distal region of the cri du chat syndrome. The previously described critical region for the speech delay may be narrowed down and microcephaly, growth retardation and dysmorphic facial features can be included in the phenotypic expression of the atypical cri du chat syndrome due to 5p15.3 deletions.
猫叫综合征的特征为猫叫样哭声、面部畸形、小头畸形、语言发育迟缓、智力障碍和生长速度缓慢，这些症状出现的频率各不相同。典型的猫叫综合征是由于5p15.2缺失所致，包括严重智力障碍、面部畸形、新生儿肌张力减退以及产前和产后生长发育迟缓，而5p15.3更远端的缺失则导致猫叫样哭声和语言发育迟缓，并产生非典型猫叫综合征的临床表现，智力损害轻微或无智力损害。在本文中，我们报告了一个三代家族，其5号染色体和15号染色体之间存在不平衡的整条臂易位，以及一个涉及5p15.33 - 32的5.5 Mb微缺失。通过报告迄今为止所描述的5p15.3最小末端缺失，并回顾文献，我们讨论了猫叫综合征远端区域的基因型/表型相关性。先前描述的语言发育迟缓关键区域可能会缩小，小头畸形、生长发育迟缓和面部畸形特征可纳入因5p15.3缺失所致非典型猫叫综合征的表型表达中。
