一名患有致死性骨发育不全婴儿的新发1;10平衡易位：候选基因位点的线索
De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.
作者信息
Hersh J H, Yen F F, Peiper S C, Barch M J, Yacoub O A, Voss D H, Roberts J L
机构信息
Department of Pediatrics, University of Louisville, Kentucky 40202, USA.
出版信息
J Med Genet. 1995 Apr;32(4):293-5. doi: 10.1136/jmg.32.4.293.
Abstract
A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia.
摘要
一名患有致死性骨发育不全的女婴被发现存在涉及1号和10号染色体的新发易位。该染色体异常可能是识别导致这种致死性骨骼发育不良的候选基因位点的重要线索。
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