Sirota L, Shabtai F, Landman I, Halbrecht I, Dulitzky F
Clin Genet. 1984 Dec;26(6):569-73. doi: 10.1111/j.1399-0004.1984.tb01105.x.
The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46XX del 11 (q23-q25). The main clinical manifestations included: trigonocephaly, flat broad nasal bridge, micrognathia, carp mouth, hypertelorism, low set ears, severe congenital heart disease, anomalies of limbs and external genitalia. In comparison to the previously reported cases of 11q-, the patient presented here had congenital anomalies not described before, including severe affected urogenital system, hypoplasia of the adrenal, accessory spleens and mild hydrocephaly.
对一名患有多种先天性异常的婴儿进行细胞遗传学分析发现，11号染色体长臂存在小片段缺失：46XX del 11 (q23-q25)。主要临床表现包括：三角头畸形、扁平宽阔鼻梁、小颌畸形、鲤鱼嘴、眼距增宽、低位耳、严重先天性心脏病、肢体和外生殖器异常。与先前报道的11q-病例相比，此处报告的患者有之前未描述的先天性异常，包括严重受累的泌尿生殖系统、肾上腺发育不全、副脾和轻度脑积水。
