King M, Hardy C, Asenbauer B, Kilpatrick M, Webb T
Children's Hospital, Dublin 1, Ireland.
J Med Genet. 1996 May;33(5):422-5. doi: 10.1136/jmg.33.5.422.
A boy was referred at 8 weeks of age for failure to thrive. Cytogenetic and molecular studies showed that he had a large proximal deletion of the maternally derived chromosome 15q. He did not have Angelman syndrome, but at 2 years of age was severely globally delayed. He died at 2 1/2 years of age.
一名8周大的男童因发育不良前来就诊。细胞遗传学和分子学研究显示,他的母源15号染色体长臂存在大片近端缺失。他没有天使综合征,但2岁时出现严重的全面发育迟缓。他在2岁半时死亡。