Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report.
Genet Couns
; 24(4): 387-91, 2013.
Article
em En
| MEDLINE
| ID: mdl-24551981
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).
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Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 11
/
Monossomia
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article