由于父源9号染色体臂间倒位9(p22q32)导致的9号染色体短臂缺失和9号染色体长臂远端重复。
9p deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32).
作者信息
Sonoda T, Ohba K, Ohdo S, Sameshima K
机构信息
Department of Pediatrics, Miyazaki Medical College, Japan.
出版信息
Jinrui Idengaku Zasshi. 1991 Mar;36(1):111-6. doi: 10.1007/BF01876811.
PMID:2062007
Abstract
A female infant with 46,XX,rec(9), dup q,inv(9)(p22q32)pat is presented. She had a duplication from 9q32 to qter and a deletion from 9p22 to 9pter. Phenotypical abnormalities observed corresponded with features noted in cases with distal dup (9q), while pathognomonic features of del(9p) syndrome were not observed.
摘要
本文报告了一名46,XX、rec(9)、dup q、inv(9)(p22q32)pat的女婴。她存在9号染色体长臂32区至末端的重复以及9号染色体短臂22区至短臂末端的缺失。观察到的表型异常与远端9号染色体长臂重复病例中所记录的特征相符，而未观察到9号染色体短臂缺失综合征的特征性表现。
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