Dup(13)(q14.2-q14.3): yet another new differential diagnostic aspect for short stature-like phenotype.
J Histochem Cytochem
; 53(3): 365-6, 2005 Mar.
Article
en En
| MEDLINE
| ID: mdl-15750021
ABSTRACT
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).
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Estatura
/
Cromosomas Humanos Par 13
/
Aberraciones Cromosómicas
/
Enfermedades Fetales
/
Trastornos del Crecimiento
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
J Histochem Cytochem
Asunto de la revista:
HISTOCITOQUIMICA
Año:
2005
Tipo del documento:
Article
País de afiliación:
Alemania