一名患有肛门直肠畸形的女婴存在9号染色体短臂部分单体性（9p22.2至pter）和18号染色体长臂部分三体性（18q21.32至qter）。
Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations.
作者信息
Chen C-P, Lin H-M, Leung C, Lin S-P, Su Y-N, Su J-W, Chen Y-T, Wang W
机构信息
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
出版信息
Genet Couns. 2012;23(2):201-6.
We report a female infant with a karyotype of 46,XX,der(9)t(9;18)(p22.2;q21.32)pat and the phenotypic features of craniofacial dysmorphisms, developmental delay, hypotonia, horizontal nystagmus, strabismus, congenital heart defects, clubfoot, and anorectal malformations with an anterior ectopic anus and a stenosed anal opening. Array comparative genomic hybridization revealed a 16.93-Mb deletion at 9p24.3-p22.2 encompassing the FREM1 gene and a 20.43-Mb duplication at 18q21.32-q23 encompassing the PIGN gene. We speculate that dual genome imbalances in FREMI at 9p22.3 and in PIGN at 18q21.3 are most likely responsible for the abnormal development of anorectum in this patient.
我们报告了一名女性婴儿，其核型为46,XX，der(9)t(9;18)(p22.2;q21.32)pat，具有颅面畸形、发育迟缓、肌张力减退、水平眼球震颤、斜视、先天性心脏缺陷、马蹄内翻足以及伴有前位异位肛门和肛门开口狭窄的肛门直肠畸形等表型特征。阵列比较基因组杂交显示，9号染色体p24.3 - p22.2区域存在16.93 Mb的缺失，包含FREM1基因；18号染色体q21.32 - q23区域存在20.43 Mb的重复，包含PIGN基因。我们推测，9号染色体p22.3区域的FREMI基因和18号染色体q21.3区域的PIGN基因的双重基因组失衡最有可能是该患者肛门直肠发育异常的原因。
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