Exclusively paternal X chromosomes in a girl with short stature.
Hum Genet
; 92(2): 175-8, 1993 Sep.
Article
em En
| MEDLINE
| ID: mdl-8370585
ABSTRACT
A 13 1/2 year-old girl with short stature and very few Turner stigmata revealed 45,X/46,XX mosaicism with 90%-100% 46,XX cells in three sequential blood lymphocyte cultures. Molecular investigation of the parental origin of her X chromosomes revealed homozygosity for paternal X markers and an absence of maternal markers. Luteinizing hormone response to growth hormone releasing hormone was increased. Impaired gonadal function and shortness of stature in this case could be a result of the mild mosaicism with a 45,X cell line and/or is a consequence of the paternal-only origin of her X chromosomes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Turner
/
Cromossomo X
/
Pai
/
Transtornos do Crescimento
/
Mosaicismo
Limite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
1993
Tipo de documento:
Article
País de afiliação:
Suíça