A Case of Mosaic Ring Chromosome 4 with Subtelomenic 4p Deletion
A Case of Mosaic Ring Chromosome 4 with Subtelomenic 4p Deletion
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DOI：
10.3343/kjlm.2009.29.1.77
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发表时间：
2009-02-01
影响因子：
--
通讯作者：
Cho, Hyoun Chan
中科院分区：
文献类型：
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作者：
Kim, Jeong Hyun;Oh, Phil Soo;Cho, Hyoun Chan
环染色体是一种结构异常，被认为是染色体短臂和长臂融合和断裂的结果。 Wolf-Hirschhorn 综合征 (WHS) 是一种众所周知的 4 号环染色体先天性异常，伴有远端短臂部分缺失。在此，我们报道了一名 10 个月大的 4 号染色体镶嵌环雄性，其主诉为严重身材矮小。他的身高为-4标准差，轻微的甲状腺功能减退症和轻度房间隔缺损/室间隔缺损，还怀疑有轻度语言发育迟缓。脑部磁共振成像显示多灶性白质软化症。外周血染色体分析显示镶嵌核型为[46,XY,r(4)(p16q35)[84]/45,XY,-4[9]/91,XXYY,dic r(4;4)(p16q35;p16q35)[5]/46,XY,dic r(4;4)(p16q35;p16q35)[2]]。 FISH 研究显示 4p 亚端粒区域缺失，4q 亚端粒区域和 WHS 区域完整。父亲和母亲的核型均正常。我们将这种表型变异与之前报道的4号环染色体的表型变异进行了比较。短臂亚端粒缺失的4号环染色体似乎与身材矮小的表型有关。 (韩国 J Lab Med 2009;29:77-81)
Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome. Wolf-Hirschhorn syndrome (WHS) is a well-known congenital anomaly in the ring chromosome 4 with a partial deletion of the distal short arm. Here we report a 10-month-old male of mosaic ring chromosome 4 with the chief complaint of severe short stature. He showed the height of -4 standard deviation, subtle hypothyroidism and mild atrial septal defect/ventricular septal defect, and also a mild language developmental delay was suspected. Brain magnetic resonance imaging showed multifocal leukomalacia. Chromosomal analysis of the peripheral blood showed the mosaic karyotype with [46,XY,r(4)(p16q35)[84]/45,XY,-4[9]/91,XXYY, dic r(4;4)(p16q35;p16q35)[5]/46,XY,dic r(4;4)(p16q35;p16q35)[2]]. FISH study showed the deletion of the 4p subtelomeric region with the intact 4q subtelomeric and WHS region. Both paternal and maternal karyotypes were normal. We compared the phenotypic variation with the previously reported cases of ring chromosome 4. The ring chromosome 4 with the subtelomeric deletion of short arm seems to be related with the phenotype of short stature. (Korean J Lab Med 2009;29:77-81)