10q末端单体综合征的临床特征。
Clinical features of monosomy 10qter.
作者信息
Zatterale A, Pagano L, Fioretti G, Caniglia M, Festa B, Renda S, Rinaldi M M, Ventruto V
出版信息
Ann Genet. 1983;26(2):106-8.
The authors report a 10qter deletion in a 16-month-old boy. The patient's phenotype includes: low birth weight, mental and growth retardation, triangular facies, hypertelorism, prominent nasal bridge, malformed and low set ears, cryptorchidism. The karyotype was 46,XY,del(10)(q26.1 leads to qter). Cytogenetic analysis of both parents, including a search for the fragile site in the 10q25 region, were normal. The assignment of the human GOT structural gene to the 10q25.3 band is suggested.
作者报告了一名16个月大男孩的10号染色体长臂末端缺失。患者的表型包括：低出生体重、智力和生长发育迟缓、三角形面容、眼距增宽、鼻梁突出、耳朵畸形且位置低、隐睾症。核型为46,XY,del(10)(q26.1→qter)。对父母双方进行的细胞遗传学分析，包括对10q25区域脆性位点的检测，结果均正常。提示人类谷草转氨酶结构基因定位于10q25.3带。
Zotero 插件