de Azevedo Moreira Lília Maria, Neri Fátima Bittencourt, de Quadros Uzeda Sheila, de Carvalho Acácia Fernandes Lacerda, Santana Gustavo Costa, Souza Fabiana Rocha, Rollemberg José Cortes
Human Genetics and Cytogenetics Laboratory, Biology Institute, Federal Univesity of Bahia (UFBA)-Campus Universitário de Ondina, Salvador, Bahia, Brazil.
Ophthalmic Genet. 2005 Mar;26(1):37-43. doi: 10.1080/13816810590927217.
Ocular anomalies have been associated with numerous chromosomal abnormalities. This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the Dup3q phenotype and severe eye and cerebellar malformations.
Clinical examination and chromosomal analysis were conducted.
The karyotype of the propositus was 46,XX, ins(3)(pter --> p25::q27 --> q21::p25 --> qter). She had an abnormal head shape, low-set malformed ears, coarse facies, short webbed neck, abnormal foot position, polycystic kidney, and spina bifida. There was also bilateral microphthalmia that was more severe on the right side, microcornea, and corneal opacity. She had posterior fossa abnormalities, including cerebellar vermis hypoplasia suggestive of a Dandy-Walker (DW) malformation.
This girl with an intrachromosomal duplication of distal 3q and typical phenotype belongs to the severe end of the spectrum for such cases. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of developmental eye genes in this chromosomal segment.
眼部异常与多种染色体异常有关。本报告描述了一名两个月大女孩的3q部分三体，其具有Dup3q表型的畸形特征以及严重的眼部和小脑畸形。
进行了临床检查和染色体分析。
先证者的核型为46,XX, ins(3)(pter --> p25::q27 --> q21::p25 --> qter)。她有头部形状异常、低位畸形耳、面容粗糙、短蹼颈、足部位置异常、多囊肾和脊柱裂。还存在双侧小眼症，右侧更严重，小角膜和角膜混浊。她有后颅窝异常，包括提示丹迪-沃克（DW）畸形的小脑蚓部发育不全。
这名患有远端3q染色体内部重复和典型表型的女孩属于此类病例的严重类型。3q重复综合征的眼部表现为该染色体区段中发育性眼基因的参与提供了额外证据。
