Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome
Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome
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DOI：
10.1002/ajmg.a.30783
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发表时间：
2005-08-30
影响因子：
2
通讯作者：
Mugneret, F
中科院分区：
文献类型：
--
作者：
Callier, P;Faivre, L;Mugneret, F
镶嵌杂色非整倍体（MVA）综合征的表型以严重的小头畸形、生长缺陷、智力迟钝和轻度身体异常为特征。MVA综合征与几种不同的非整倍性嵌合体有关，涉及许多不同的染色体，有或没有过早的着丝粒分裂（PCD）。迄今为止，已报告了28例MVA综合征。我们报告第一例MVA综合征无小头畸形。我们的病人的临床特征包括颅面畸形，生长迟缓和发育迟缓。细胞遗传学分析和FISH研究显示，在血液淋巴细胞和无PCD的成纤维细胞中分别存在多个非整倍体，其中三体18、19和8。并与文献报道的另一例MVA综合征作了比较。从这个病例报告中，我们认为，小头畸形是不是强制性的诊断MVA综合征。(c)2005 Wiley-Liss，Inc.
The phenotype of mosaic variegated aneuploidy (MVA) syndrome is characterized by severe microcephaly, growth deficiency, mental retardation, and mild physical anomalies. The MVA syndrome is associated with mosaicism for several different aneuploidies involving many different chromosomes with or without premature centromere division (PCD). To date 28 cases of MVA syndrome have been reported. We report the first case of MVA syndrome without microcephaly. The clinical features in our patient included craniofacial dysmorphic features, growth retardation, and developmental delay. Cytogenetics analyses and FISH studies showed multiple aneuploidy with trisomy 18, 19, and 8, respectively in blood lymphocyte and fibroblastes without PCD. This case is compared with the other of MVA syndrome previously reported in literature. From this case report, we suggest that microcephaly is not mandatory for the diagnosis of MVA syndrome. (c) 2005 Wiley-Liss, Inc.