Clinical and genetic study of a child with 15q11.2 microduplication / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 64-66, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-781292
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a child with developmental delay and intellectual disability.@*METHODS@#Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis.@*RESULTS@#No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus.@*CONCLUSION@#15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Cromosomas Humanos Par 15
/
Discapacidades del Desarrollo
/
Bandeo Cromosómico
/
Proteínas Adaptadoras Transductoras de Señales
/
Duplicación Cromosómica
/
Genética
/
Cariotipificación
/
Discapacidad Intelectual
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Femenino
/
Humanos
/
Masculino
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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