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Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report. 2013

B Say, and N Guzoglu, and N Uras, and Z Candemir, and I Akin, and U Dilmen
Division of Neonatology, Zekai Tahir Burak Maternity Teaching Hospital, Ankara, Turkey. birgulliva@hotmail.com

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).

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D009006 Monosomy The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1. Monosomies
D002880 Chromosomes, Human, Pair 11 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 11
D002893 Chromosomes, Human, Pair 3 A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. Chromosome 3
D004310 Double Outlet Right Ventricle Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted. Taussig-Bing Anomaly,Double Outlet Right Ventricle, Noncommitted VSD,Double Outlet Right Ventricle, Subaortic VSD,Double Outlet Right Ventricle, Subpulmonary VSD,Double-Outlet Right Ventricle,Anomaly, Taussig-Bing,Double-Outlet Right Ventricles,Right Ventricle, Double-Outlet,Taussig Bing Anomaly,Ventricle, Double-Outlet Right
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D012688 Septum Pellucidum A triangular double membrane separating the anterior horns of the LATERAL VENTRICLES of the brain. It is situated in the median plane and bounded by the CORPUS CALLOSUM and the body and columns of the FORNIX (BRAIN). Septum Lucidum,Septum Pelusidum,Supracommissural Septum,Lucidum, Septum,Lucidums, Septum,Pellucidum, Septum,Pelusidum, Septum,Pelusidums, Septum,Septum Lucidums,Septum Pelusidums,Septum, Supracommissural,Septums, Supracommissural,Supracommissural Septums
D014314 Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial

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