Moedjono S J, Funderburk S J, Sparkes R S
Hum Genet. 1978 Oct 19;44(1):51-7. doi: 10.1007/BF00283574.
A 13-year-old girl presented with microcephaly, short and broad neck, low posterior hairline, congenital heart disease, limitation of joint movement, and mild mental retardation. Chromosomal analysis showed interstitial deletion of band p14 of the short arm of chromosome 7. The patient's physical and cytogenetic findings are compared with those of five other patients with 7p- deletions.
一名13岁女孩出现小头畸形、短而宽的颈部、低后发际线、先天性心脏病、关节活动受限和轻度智力迟钝。染色体分析显示7号染色体短臂p14带间质缺失。将该患者的体格和细胞遗传学检查结果与其他5例7p缺失患者的结果进行了比较。