Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations

C-P Chen; H-M Lin; C Leung; S-P Lin; Y-N Su; J-W Su; Y-T Chen; W Wang

Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations

Genet Couns. 2012;23(2):201-6.

Authors

C-P Chen¹, H-M Lin, C Leung, S-P Lin, Y-N Su, J-W Su, Y-T Chen, W Wang

Affiliation

¹ Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com

PMID: 22876578

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Anorectal Malformations
Anus, Imperforate / genetics*
Chromosome Deletion
Chromosomes, Human, Pair 18 / genetics
Chromosomes, Human, Pair 9 / genetics
Craniofacial Abnormalities / genetics
Developmental Disabilities / genetics
Female
Heart Defects, Congenital / genetics
Humans
Infant
Nucleic Acid Hybridization / genetics
Phosphotransferases / genetics*
Receptors, Interleukin / genetics*
Trisomy / genetics*

Substances

Frem1 protein, human
Receptors, Interleukin
PIGN protein, human
Phosphotransferases

Supplementary concepts

Chromosome 18, trisomy 18q
Chromosome 9p Deletion Syndrome