+12p综合征。病例报告与综述。
Syndrome +12p. Case report and review.
作者信息
Tenconi R, Piovan E, Preto A, Magnabosco R, Baccichetti C
出版信息
Hum Genet. 1977 Nov 2;39(1):97-101. doi: 10.1007/BF00273157.
PMID:924448
Abstract
Familial 12/15 translocation with a child trisomic for the short arm of chromosome 12 (segment of 12.1 leads to pter) is reported. The clinical picture of the child is strikingly similar to previous reports of 12p trisomy. The main symptoms of 12p syndrome are defined.
摘要
报道了一例家族性12/15易位，患儿12号染色体短臂三体（12.1节段至染色体短臂末端）。该患儿的临床表现与先前报道的12号染色体短臂三体极为相似。明确了12号染色体短臂综合征的主要症状。
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