[Phenotypic and genetic analysis of a boy with inv dup del(8p)].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(6): 581-584, 2021 Jun 10.
Article
en Zh
| MEDLINE
| ID: mdl-34096031
OBJECTIVE: To delineate the nature and origin of a chromosomal aberration detected in a boy with mental retardation. METHODS: The proband and his parents were subjected to routine G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis. RESULTS: The karyotype of the proband was determined as 46, XX, add(8)(p23). No karyotypic abnormality was detected in either of his parents. SNP-array has identified a 34.9 Mb duplication at 8p23.1q11.1 and a 6.78 Mb microdeletion at 8p23.1pter in the proband. No copy number variation was detected in either parent. CONCLUSION: The child was diagnosed with 8p inverted duplication deletion syndrome, which might be induced by non-allelic homologous recombination between olfactory genes in the 8p23.1 region.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Humans
/
Male
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
China