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环状染色体的遗传是不多见的。本文作者报道一例18号环状染色体由母亲传递至儿子的病例及有关的临床症状。病孩生于1971年,母亲23岁,初次妊娠。分娩时无并发症,婴儿除脾大外均属正常。在6个月时发现有小头,耳低位。当时的颅骨照相无钙化或骨性接合。T4和TSH测试正常。脾大,有先天性巨细胞病毒感染。随后的几年有持续性小头畸形。目前在残疾班,智商低(IQ43)。1984年(12岁半)
The inheritance of circular chromosomes is rare. The authors report a case of the 18th ring-shaped chromosome transmitted from mother to son and related clinical symptoms. Born in 1971, the sick child was 23 years old with her first pregnancy. No complications during childbirth, the baby except spleen are normal. In 6 months found a small head, ear low. At the time of the skull photography without calcification or osseous engagement. T4 and TSH tests are normal. Splenomegaly, with congenital cytomegalovirus infection. The following years had persistent microcephaly. Currently in the disabled class, IQ is low (IQ43). 1984 (12 years and a half)