title: Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report.
abstract: Su Partial trisomy 3p and partial monosomy 11q are rare chromosomal disorders with a deletion of part of chromosome 11 combined with a duplication of part of chromosome 3. These are usually inherited from a parent who carries a balanced translocation involving chromosome 3, which can result in the unbalanced translocation trisomy 3p in a child. In this paper, we report a newborn who has dysmorphic facial features, double outlet right ventricle, hypotonia, hypospadias, neonatal thrombocytopenia, hydroureteronephrosis, talipes equinovarus and septum pellucidum et vergae. Cytogenetic investigation revealed 46,XY,der(11)t(3;11)(p22.2;q23.3) and the karyotype of his father showed a balanced translocation, 46XY,t(3;11)(p22.2;p23.3).
authors.affiliation: Division of Neonatology, Zekai Tahir Burak Maternity Teaching Hospital, Ankara, Turkey. birgulliva@hotmail.com
authors.forename: B
authors.initials: B
authors.lastname: Say
authors.affiliation: Division of Neonatology, Zekai Tahir Burak Maternity Teaching Hospital, Ankara, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Guzoglu
authors.affiliation: Division of Neonatology, Zekai Tahir Burak Maternity Teaching Hospital, Ankara, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Uras
authors.affiliation: Division of Genetics, Zekai Tahir Burak Maternity Teaching Hospital, Ankara, Turkey.
authors.forename: Z
authors.initials: Z
authors.lastname: Candemir
authors.affiliation: Duzen laboratory, Ankara, Turkey.
authors.forename: I
authors.initials: I
authors.lastname: Akin
authors.affiliation: Division of Neonatology, Zekai Tahir Burak Maternity Teaching Hospital, Ankara, Turkey.
authors.forename: U
authors.initials: U
authors.lastname: Dilmen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D004310:Double Outlet Right Ventricle / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D059785:Karyotype; D008297:Male; D009006:Monosomy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D012688:Septum Pellucidum / Q000473:pathology; D014314:Trisomy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology