9号染色体三体嵌合体，发育中的软骨出现点状矿化。
Trisomy 9 mosaicism with punctate mineralization in developing cartilages.
作者信息
Akatsuka A, Nishiya O, Kitagawa T, Kageyama A, Inana I, Nakagome Y
出版信息
Eur J Pediatr. 1979 Aug;131(4):271-5. doi: 10.1007/BF00444348.
PMID:477684
Abstract
A case of mosaic trisomy 9 (46,XX/47,XX,+9) is described. The main clinical findings included intrauterine growth retardation, failure to thrive, hydrocephalus, deeply set eyes, prominent antihelix, highly arched palate, subluxation of the interphalangeal joints of some fingers, hip dislocation, excessive sweating, and punctate mineralization in developing cartilages.
摘要
本文描述了一例9号染色体嵌合三体（46,XX/47,XX,+9）的病例。主要临床特征包括宫内生长迟缓、发育不良、脑积水、眼深陷、对耳轮突出、高拱腭、部分手指指间关节半脱位、髋关节脱位、多汗以及发育中的软骨点状矿化。
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