14号染色体长臂部分三体
Partial trisomy 14q.
作者信息
Lopez Pajares I, Delicado A, Cobos P V, Lledo G, Peralta A
出版信息
Hum Genet. 1979 Jan 25;46(2):243-7. doi: 10.1007/BF00291928.
PMID:422208
Abstract
A dysmorphic female born with partial trisomy of the proximal segment of the long arm of chromosome 14 had 47 chromosomes. The extra one was acrocentric, smaller than the D group, and bigger than the G-chromosome group. By GTG banding it was identified as a deleted chromosome 14, the karyotype being 47,XX,+del 14(q24). Chromosome analysis of the parents was normal.
摘要
一名患有14号染色体长臂近端部分三体性的畸形女性出生时染色体数为47条。多余的一条染色体为近端着丝粒染色体，比D组染色体小，比G组染色体大。通过GTG显带技术，它被鉴定为一条缺失的14号染色体，核型为47,XX,+del 14(q24)。父母的染色体分析结果正常。
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