Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Más filtros

Banco de datos
Tipo del documento
Publication year range
1.
Clin Genet ; 85(4): 328-35, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23578112

RESUMEN

In a multidisciplinary outpatient clinic for hereditary skin diseases and/or syndromes involving the skin, 7% (30 of 409) of patients were found to have an abnormality involving the X chromosome, a mutation in a gene located on the X chromosome or a clinical diagnosis of an X-linked monogenetic condition. The collaboration of a dermatologist and a clinical geneticist proves to be very valuable in recognizing and diagnosing these conditions. By combining their specific expertize in counselling an individual patient, X-linked diagnoses were recognized and could be confirmed by molecular and/or cytogenetic studies in 24 of 30 cases. Mosaicism plays an important role in many X-linked hereditary skin disorders. From our experience, we extracted clinical clues for specialists working in the field of genetics and/or dermatology for considering X-linked disorders involving the skin.


Asunto(s)
Trastornos de los Cromosomas/genética , Cromosomas Humanos X , Enfermedades de la Piel/genética , Adolescente , Aberraciones Cromosómicas , Femenino , Humanos , Cariotipificación , Masculino , Mosaicismo , Guías de Práctica Clínica como Asunto , Enfermedades de la Piel/diagnóstico
SELECCIÓN DE REFERENCIAS
Detalles de la búsqueda