[Clinical phenotype and genetic analysis of a rare case with 6p duplication and terminal deletion syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(9): 1117-1123, 2024 Sep 10.
Article
em Zh
| MEDLINE
| ID: mdl-39217493
ABSTRACT
OBJECTIVE:
To explore the genetic basis for a child with developmental delay and intellectual deficit (DD/ID).METHODS:
A child who was admitted to the Maternal and Child Health Care Hospital of Longhua District of Shenzhen City on June 3, 2023 due to DD/ID, craniofacial malformations, and recurrent infections of upper respiratory tract was selected as the study subject. G-banded chromosomal karyotyping was carried out for the child and her parents. Low-depth genome-wide copy number variation sequencing (CNV-seq) and chromosomal microarray analysis (CMA) were used to screen for genome-wide copy number variations (CNV), and fluorescence in situ hybridization (FISH) was used to verify the origin of candidate CNV.RESULTS:
The child, an 8-year-old girl, had featured unexplained growth and intellectual development delay, multiple craniofacial malformations, and recurrent infections of the upper respiratory tract. She was found to have a karyotype of 46,XX,der(6)add(6)(q23), while both of her parents were normal. Both CNV-seq and CMA showed that the child has harbored a 21.38 Mb interstitial duplication at 6p25.3p22.3 and a 0.78 Mb terminal deletion at 6p25. FISH verified that both the duplication and deletion had occurred de novo.CONCLUSION:
The abnormal phenotype of the child may be attributed to the 6p duplication and terminal deletion.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Deleção Cromossômica
/
Variações do Número de Cópias de DNA
Limite:
Child
/
Female
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China
País de publicação:
China