title: Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings.
abstract: We report a new-born girl with partial trisomy of 4q28-qter and partial monosomy of 9p24-9ter. Our patient has choanal atresia, hypertelorism, wide nasal bridge, high arched palate, discrete nipples, heart defects, myoclonic seizures and various dysmorphic findings. Standard chromosomal analysis with G-banding with Trypsin-Giemsa revealed 46,XX,der(9)t(4;9)(q28;p24) resulting from the mother's t(4,9) (q28;p24) karyotype. Deletions of the terminal part of 9p and partial trisomy of chromosome 4q are rare chromosomal alterations. To our knowledge, this is the first report of choanal atresia in a patient with a partial trisomy of 4q28-qter and partial monosomy 9p24-9ter combination, which were detected by integrated cytogenetic and genomic analysis.
authors.affiliation: Bulent Ecevit University, Faculty of Medicine, Department of Medical Genetics, Zonguldak, Turkey. Electronic address: gunes.cak@hotmail.com.
authors.forename: Gunes
authors.initials: G
authors.lastname: Cakmak-Genc
authors.affiliation: Bulent Ecevit University, Faculty of Medicine, Department of Medical Genetics, Zonguldak, Turkey.
authors.forename: Sevim
authors.initials: S
authors.lastname: Karakas-Celik
authors.affiliation: Bulent Ecevit University, Faculty of Medicine, Department of Medical Genetics, Zonguldak, Turkey.
authors.forename: Ahmet
authors.initials: A
authors.lastname: Dursun
authors.affiliation: Bulent Ecevit University, Faculty of Medicine, Department of Pediatrics, Zonguldak, Turkey.
authors.forename: İbrahim Etem
authors.initials: İE
authors.lastname: Piskin
mesh_terms: D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002754:Choanal Atresia / Q000175:diagnosis* / Q000235:genetics; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics