title: Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations.
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.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: C-P
authors.initials: CP
authors.lastname: Chen
authors.forename: H-M
authors.initials: HM
authors.lastname: Lin
authors.forename: C
authors.initials: C
authors.lastname: Leung
authors.forename: S-P
authors.initials: SP
authors.lastname: Lin
authors.forename: Y-N
authors.initials: YN
authors.lastname: Su
authors.forename: J-W
authors.initials: JW
authors.lastname: Su
authors.forename: Y-T
authors.initials: YT
authors.lastname: Chen
authors.forename: W
authors.initials: W
authors.lastname: Wang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000071056:Anorectal Malformations; D001006:Anus, Imperforate / Q000235:genetics*; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D009693:Nucleic Acid Hybridization / Q000235:genetics; D010770:Phosphotransferases / Q000235:genetics*; D018123:Receptors, Interleukin / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*
chemical_list: C548979:Frem1 protein, human; D018123:Receptors, Interleukin; C561296:PIGN protein, human; D010770:Phosphotransferases