[Partial trisomy of chromosome 3 resulting from paternal translocation].
作者信息
Cointin M, Olive D, Gilgenkrantz S, Debruille C
出版信息
Arch Fr Pediatr. 1985 Feb;42(2):115-7.
PMID:4004467
Abstract
The authors report a case of a 3 year-old patient presenting with partial trisomy of the short arm of chromosome 3. According to 21 previously published cases, the main features characterizing this chromosomal abnormality which is mainly observed in males are: cranio-facial dysmorphy, cardiac and genito-urinary malformations, psychomotor retardation. Cytogenetic studies always show an inherited balanced translocation allowing a possible prenatal diagnosis.
摘要
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[Partial trisomy of chromosome 3 resulting from paternal translocation].
Arch Fr Pediatr. 1985 Feb;42(2):115-7.
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