一名智力发育迟缓的3岁女童，其染色体核型为47,XXX/48,XXXX，伴有多种躯体异常。
47,XXX/48,XXXX in a retarded three year old girl with multiple somatic anomalies.
作者信息
Ioan D, Hîrşovescu N, Dumitriu L, Belengeanu V, Muşeţeanu P, Maximilian C
出版信息
Endocrinologie. 1985 Apr-Jun;23(2):121-4.
PMID:4035270
Abstract
A 3-year old girl with 47,XXX/48,XXXX caryotype is presented. She suffers from psychomotor retardation, dolichocephaly, malformed ears, "a false air of trisomy 21", malformation of the legs, obesity. The authors discuss briefly the available data on the triplo and tetra X phenotype and syndromes.
摘要
本文报告了一名3岁女孩，其核型为47,XXX/48,XXXX。她患有精神运动发育迟缓、长头畸形、耳部畸形、“21三体综合征假象”、腿部畸形和肥胖症。作者简要讨论了关于三倍体和四倍体X染色体表型及综合征的现有数据。
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47,XXX/48,XXXX in a retarded three year old girl with multiple somatic anomalies.一名智力发育迟缓的3岁女童，其染色体核型为47,XXX/48,XXXX，伴有多种躯体异常。
Endocrinologie. 1985 Apr-Jun;23(2):121-4.
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