Reish O, Berry S A, Hirsch B
Department of Pediatrics, University of Minnesota, Minneapolis, USA.
Am J Med Genet. 1995 Dec 4;59(4):467-75. doi: 10.1002/ajmg.1320590413.
We describe 5 patients ranging in age from 3 to 47 years, with karyotypic abnormalities resulting in monosomy for portion of 1p36.3, microcephaly, mental retardation, prominent forehead, deep-set eyes, depressed nasal bridge, flat midface, relative prognathism, and abnormal ears. Four patients have small hands and feet. All exhibited self-abusive behavior. Additional findings in some of the patients include brain anomalies, optic atrophy, hearing loss and skeletal deformities. The breakpoints within chromosome 1 were designated at 1p36.33 (1 case). Thus, the smallest region of deletion overlap is 1p36.33-->1pter. Detection of the abnormal 1 relied on high resolution G-band analysis. Fluorescence in situ hybridization (FISH) utilizing a DNA probe (Oncor D1Z2) containing the repetitive sequences in distal 1p36, confirmed a deletion of one 1 homologue in all 5 cases. The abnormal 1 resulted from a de novo deletion in only one patient. The remaining patients were either confirmed (3 cases) or suspected (1 case) to have unbalanced translocations. Despite the additional genetic imbalance present in these four cases, monosomy of 1p36.33 appears to be responsible for a specific clinical phenotype. Characterization of this phenotype should assist in the clinical diagnosis of this chromosome abnormality.
我们描述了5例年龄在3至47岁之间的患者，他们存在核型异常，导致1p36.3部分单体性，伴有小头畸形、智力发育迟缓、前额突出、眼窝深陷、鼻梁凹陷、面部中部扁平、相对凸颌以及耳部异常。4例患者有小手和小脚。所有患者均表现出自伤行为。部分患者的其他发现包括脑异常、视神经萎缩、听力丧失和骨骼畸形。1号染色体内的断点定位于1p36.33（1例）。因此，最小的缺失重叠区域是1p36.33→1p末端。异常1号染色体的检测依赖于高分辨率G带分析。利用包含1p36远端重复序列的DNA探针（Oncor D1Z2）进行荧光原位杂交（FISH），证实所有5例患者均有一条1号同源染色体缺失。仅1例患者的异常1号染色体源于新发缺失。其余患者中，3例被证实、1例被怀疑存在不平衡易位。尽管这4例患者还存在其他遗传不平衡，但1p36.33单体性似乎是导致特定临床表型的原因。对该表型的特征描述应有助于对这种染色体异常进行临床诊断。
