Clinical outcomes and counseling issues regarding partial trisomy of terminal Xp in a child with developmental delay
SQUMJ-Sultan Qaboos University Medical Journal. 2013; 13 (2): 311-317
en Inglés
| IMEMR
| ID: emr-126037
ABSTRACT
Female carriers of balanced translocations involving an X chromosome and an autosome present genetic councelling challenges. This is in view of the number of possible meiotic outcomes, but also due to the impact of X chromosome-localised genes that are no longer subject to gene silencing through the X chromosome inactivation centre. We present a case where delineation of the extent of X chromosome-localised genes on the derivative autosome using molecular karyotyping offers critical information in the context of genetic councelling
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Índice:
IMEMR (Mediterraneo Oriental)
Asunto principal:
Translocación Genética
/
Discapacidades del Desarrollo
/
Cromosomas Humanos X
/
Evaluación del Resultado de la Atención al Paciente
/
Asesoramiento Genético
/
Proteínas del Tejido Nervioso
Tipo de estudio:
Informe de Casos
Límite:
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Sultan Qaboos Univ. Med. J.
Año:
2013
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