Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.
Am J Hum Genet
; 63(6): 1757-66, 1998 Dec.
Article
en En
| MEDLINE
| ID: mdl-9837829
ABSTRACT
Turner syndrome is the complex human phenotype associated with complete or partial monosomy X. Principle features of Turner syndrome include short stature, ovarian failure, and a variety of other anatomic and physiological abnormalities, such as webbed neck, lymphedema, cardiovascular and renal anomalies, hypertension, and autoimmune thyroid disease. We studied 28 apparently nonmosaic subjects with partial deletions of Xp, in order to map loci responsible for various components of the Turner syndrome phenotype. Subjects were carefully evaluated for the presence or absence of Turner syndrome features, and their deletions were mapped by FISH with a panel of Xp markers. Using a statistical method to examine genotype/phenotype correlations, we mapped one or more Turner syndrome traits to a critical region in Xp11.2-p22.1. These traits included short stature, ovarian failure, high-arched palate, and autoimmune thyroid disease. The results are useful for genetic counseling of individuals with partial monosomy X. Study of additional subjects should refine the localization of Turner syndrome loci and provide a rational basis for exploration of candidate genes.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Turner
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Cromosoma X
Tipo de estudio:
Etiology_studies
/
Incidence_studies
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Observational_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Middle aged
Idioma:
En
Revista:
Am J Hum Genet
Año:
1998
Tipo del documento:
Article
País de afiliación:
Estados Unidos