title: Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocation.
abstract: This is a report of a 6 month-old boy with a partial trisomy 2p24-->pter and monosomy 18q22-->qter. This is the first case presenting this unbalanced translocation with phenotypic features. The patient had growth and developmental retardation, facial dysmorphism, cleft palate, congenital cardiopathy, hypospadias, evantration of diaphragm and deafness. Cranial MRI showed mild ventricular dilatation. Cytogenetic analysis of the patient and his parents revealed a karyotype 46,XY, der(18), t(2;18)(p24;q22)mat in the patient. Subtelomeric FISH analysis confirmed the cytogenetic findings. Phenotypic features were consistent with either partial trisomy 2p or deletion 18q.
authors.affiliation: Ege University Faculty of Medicine, Department of Pediatrics, Pediatric Genetic Subdivision, 35100, Bornova, Izmir, Turkey. tahiratik@yahoo.com
authors.forename: T
authors.initials: T
authors.lastname: Atik
authors.forename: B
authors.initials: B
authors.lastname: Durmaz
authors.forename: O U
authors.initials: OU
authors.lastname: Yorganci
authors.forename: O
authors.initials: O
authors.lastname: Cogulu
authors.forename: M
authors.initials: M
authors.lastname: Kioutsouk
authors.forename: F
authors.initials: F
authors.lastname: Ozkinay
mesh_terms: D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D009006:Monosomy / Q000235:genetics* / Q000473:pathology; D010290:Parents; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics* / Q000473:pathology