Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor.
Fertil Steril
; 70(6): 1169-72, 1998 Dec.
Article
em En
| MEDLINE
| ID: mdl-9848314
ABSTRACT
OBJECTIVE:
To report the transmission of unsuspected X-linked ocular albinism in an oocyte donor program.DESIGN:
Case report.SETTING:
University medical center. PATIENT(S) A 24-year-old white female oocyte donor and the outcomes of three recipient pregnancies. INTERVENTION(S) Clinical assessment and molecular diagnostic tests. MAIN OUTCOME MEASURE(S) Mutation detection. RESULT(S) Demonstration of carrier status and multiple transmissions of a mutant allele. CONCLUSION(S) We describe the transmission of a mutant allele for X-linked ocular albinism from an unsuspected carrier female oocyte donor to three independent pregnancies. We emphasize the need for diligent inquisition to clarify any unusual history of ocular or constitutional signs that might signify an X-linked disorder.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doadores de Tecidos
/
Cromossomo X
/
Albinismo Ocular
/
Triagem de Portadores Genéticos
/
Ligação Genética
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Fertil Steril
Ano de publicação:
1998
Tipo de documento:
Article