Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata
Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata
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DOI：
10.1097/01.mcd.0000228425.89660.bf
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发表时间：
2007-04-01
影响因子：
0.7
通讯作者：
Bryndorf, Thue
中科院分区：
文献类型：
--
作者：
Bisgaard, Anne-Marie;Rasmussen, Leif Normann;Bryndorf, Thue
1 号染色体短臂上的间质缺失很少见。我们描述了一名患有严重智力低下、身材矮小和畸形特征（包括缺损）的女孩，其中高分辨率比较基因组杂交显示在带 1p13.1 和 1p21.1 中存在带断点的间质缺失。通过实时聚合酶链式反应进一步表征了缺失。我们假设 WNT2B（无翼型 MMTV 整合位点家族，成员 213）和 NTNG1（Netrin G1）的单倍体不足导致了患者的表型。
Interstitial deletions on the short arm of chromosome 1 are rare. We describe a girl with severe mental retardation, short stature and dysmorphic features including colobomata where high-resolution comparative genomic hybridization revealed an interstitial deletion with breakpoints in band 1p13.1 and 1p21.1. The deletion was further characterized by real-time polymerase chain reaction. We hypothesize that haploinsufficiency of WNT2B (wingless-type MMTV integration site family, member 213) and NTNG1 (Netrin G1) contributed to the patient's phenotype.