一例伴有12号染色体长臂全臂易位嵌合体的新发i(12p)病例。
A case of de novo i(12p) with 12q whole-arm translocation mosaicism.
作者信息
Marques-de-Faria A P, Hackel C
机构信息
Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Brazil.
出版信息
Am J Med Genet. 1989 Aug;33(4):453-6. doi: 10.1002/ajmg.1320330407.
PMID:2596503
Abstract
We report a dup(12p) due to a de novo i(12p) in a girl with mosaicism for 12q whole-arm translocations onto 7p, 7q, and 11q terminal regions. The dup(12p) syndrome was confirmed by clinical, cytogenetic, and LDH-dosage studies.
摘要
我们报告了一名患有12q全臂易位至7p、7q和11q末端区域嵌合体的女孩，因新发i(12p)导致dup(12p)。通过临床、细胞遗传学和乳酸脱氢酶剂量研究确诊了dup(12p)综合征。
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