Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 520-523, 2015.
Artículo
en Chino
| WPRIM
| ID: wpr-288039
ABSTRACT
<p><b>OBJECTIVE</b>To determine the genetic cause for a patient featuring decreased pigmentation of the skin and iris, hearing loss and multiple congenital anomalies.</p><p><b>METHODS</b>Routine chromosomal banding was performed to analyze the karyotype of the patient and his parents. Single nucleotide polymorphism array (SNP array) was employed to identify cryptic chromosome aberrations, and quantitative real-time PCR was used to confirm the results.</p><p><b>RESULTS</b>Karyotype analysis has revealed no obvious anomaly for the patient and his parents. SNP array analysis of the patient has demonstrated a 3.9 Mb deletion encompassing 3p13p14.1, which caused loss of entire MITF gene. The deletion was confirmed by quantitative real-time PCR. Clinical features of the patient have included severe bilateral hearing loss, decreased pigmentation of the skin and iris and multiple congenital anomalies.</p><p><b>CONCLUSION</b>The patient, carrying a 3p13p14.1 deletion, has features of Tietz syndrome/Waardenburg syndrome type IIa. This case may provide additional data for the study of genotype-phenotype correlation of this disease.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Fenotipo
/
Síndrome de Waardenburg
/
Cromosomas Humanos Par 3
/
China
/
Eliminación de Gen
/
Polimorfismo de Nucleótido Simple
/
Pueblo Asiatico
/
Factor de Transcripción Asociado a Microftalmía
/
Genética
Tipo de estudio:
Estudio pronóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Lactante
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2015
Tipo del documento:
Artículo
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