[Familial occurrence of Turner syndrome]. / Turner-szindróma familiáris elófordulása.
Orv Hetil
; 141(45): 2443-6, 2000 Nov 05.
Article
en Hu
| MEDLINE
| ID: mdl-11111386
ABSTRACT
The authors report a family in which a woman with the mosaic Turner karyotype 45,X/46,X,r(X) transmitted the ring (X) chromosome to the second daughter and transmitted the X-derived chromosome to the first daughter. The mother had normal fertility with three documented pregnancies and conceptions occurred without any hormonal therapy. Her first pregnancy ended with spontaneous abortion, while the second pregnancy resulted in a 45,X/46,X,+mar female with ovarian failure and the third pregnancy resulted in a 45,X/46,X,r(X) female. The nature of the ring chromosome was confirmed by conventional cytogenetic technics. A small marker chromosome was identified as an X-derived chromosome by fluorescent in situ hibridisation (FISH).
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Turner
/
Cromosoma X
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
/
Female
/
Humans
Idioma:
Hu
Revista:
Orv Hetil
Año:
2000
Tipo del documento:
Article