一例具有一些不寻常临床特征的9号染色体短臂部分单体综合征病例。
A case of partial 9p monosomy with some unusual clinical features.
作者信息
Rutten F J, Hustinx T W, Dunk-Tillemans A A, Scheres J M, Tjon Y S
出版信息
Ann Genet. 1978 Mar;21(1):51-5.
PMID:308344
Abstract
A patient is described with a karyotype 46,XX,del(9)(qter leads to p22:) and having the main clinical characteristics of pure monosomy for part of the short arm of chromosome No 9, among which craniosynostosis and trigonocephaly. She has also a few atypical features: a clearly advanced osseous maturation, marked congenital vertebral anomalies and unusual dermatoglyphics.
摘要
描述了一名患者，其核型为46,XX,del(9)(qter导致p22:)，具有9号染色体短臂部分纯单体的主要临床特征，其中包括颅缝早闭和三角头畸形。她还有一些非典型特征：明显提前的骨成熟、显著的先天性椎体异常和异常的皮纹。
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