Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type.
作者:
主题词
青少年(Adolescent);点状软骨发育异常(Chondrodysplasia Punctata);染色体, 人, 9对(Chromosomes, Human, Pair 9);染色体, 人, X(Chromosomes, Human, X);DNA(DNA);手畸形, 先天性(Hand Deformities, Congenital);人类(Humans);男(雄)性(Male);核酸杂交(Nucleic Acid Hybridization);肥胖症(Obesity);寡核苷酸序列分析(Oligonucleotide Array Sequence Analysis);易位, 遗传(Translocation, Genetic);三体性(Trisomy)
DOI
10.1016/j.ejmg.2005.04.014
PMID
16179225
发布时间
2011-11-17
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