Bourrouillou G, Colombies P, Gallegos D, Manelfe C, Rochiccioli P
Ann Genet. 1981;24(1):61-4.
A new case of monosomy 10p without associated chromosomal abnormality is reported. This observation, compared with three others from the literature, shows the following common symptoms: microcephaly, antimongoloid slant of the palpebral fissures, low-set ears, prominent anthelix, congenital heart disease, abnormalities of the limbs. Cranial tomography demonstrates a midline developmental anomaly of the brain (cavum vergae associated with cavum septi pellucidi).
报告了一例无相关染色体异常的10号染色体短臂单体病例。将该病例与文献中的其他三例进行比较,发现有以下共同症状:小头畸形、睑裂反蒙古样倾斜、低位耳、对耳轮突出、先天性心脏病、肢体异常。头颅断层扫描显示大脑中线发育异常(透明隔腔合并穹窿腔)。