Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).
Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).
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核型为 46,XY,del(2)(q37) 的轻度畸形低渗婴儿 2 号染色体长臂末端缺失。
DOI：
10.1002/ajmg.1320320315
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发表时间：
1989
期刊：
影响因子：
--
通讯作者：
Glover,TW
中科院分区：
文献类型：
--
作者：
Gorski,JL;Cox,BA;Kyine,M;Uhlmann,W;Glover,TW
我们描述了一个男孩与严重肌张力减退和轻微的面部异常与染色体2q（46，XY，del（2）（q37））的末端缺失。与文献中以前的病例比较表明，这种特殊的缺失会导致婴儿肌张力减退、发育迟缓和轻微的颅面异常，包括额部隆起和小颌。该患者没有真正的畸形和少数轻微异常，这表明需要重新评估从神经功能受损个体获得染色体分析的适应症。
We describe a boy with severe hypotonia and minor facial anomalies with a terminal deletion of chromosome 2q (46,XY,del(2)(q37)). Comparison with previous cases in the literature indicates that this particular deletion results in infantile hypotonia, developmental delay, and minor craniofacial anomalies including frontal bossing and micrognathia. The absence of true malformations and few minor anomalies in this patient suggests that indications for obtaining a chromosome analysis from neurologically impaired individuals need to be reevaluated.