1.
J Histochem Cytochem
; 53(3): 365-6, 2005 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15750021
RESUMO
We report on the case of a pregnant woman with hyposomia who was previously suspected of having Turner syndrome. Prenatal cytogenetic diagnostics showed a fetal karyotype of 46,XX,dup(13)(q14.2q21.1) ish.13q14(RB1 x 3). Parental and grandparental chromosome analyses were performed and the dup(13) was found to be of maternal origin (de novo). The pregnancy was continued and a healthy female child was born with normal development apart from growth retardation. The reported chromosomal aberration is, together with two other cases reported in the literature, the first hint of a short stature-like phenotype due to dup(13)(q14.2q14.3).
Assuntos
Estatura/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 13/genética , Doenças Fetais/genética , Transtornos do Crescimento/genética , Adulto , Bandeamento Cromossômico , Feminino , Doenças Fetais/diagnóstico , Transtornos do Crescimento/diagnóstico , Humanos , Recém-Nascido , Fenótipo , Gravidez , Diagnóstico Pré-Natal
2.
Prenat Diagn
; 23(9): 765-7, 2003 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12975792
3.
Prenat Diagn
; 22(6): 497-9, 2002 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12116314