在遗传咨询门诊中,我们对一名智力低下的患儿作染色体分析,发现其7号染色体短臂异常,其父和祖母均为1号与7号染色体易位。现报告如下。 病例介绍 患儿女性,17个月,第一胎足月顺产,出生后体重增长缓慢,11个月会抬头,1岁后才能独坐及翻身,至今不会叫人,智力发育迟缓。 体检:体重8.7公斤,头围48厘米,枕部 In the genetic counseling clinic, we performed a chromosomal analysis on a child with mental retardation and found that the short arm of chromosome 7 was abnormal. Both his father and his grandmother were translocations of chromosomes 1 and 7. The report is as follows. Case description Children with children, 17 months, full-term first-term birth abortion, birth weight growth slowly, 11 months will rise, after 1 year old can sit alone and turn over, so far will not call people, mental retardation. Physical examination: Weight 8.7 kg, head circumference 48 cm, occipital