Clinical genetic analysis of an infant with 1q21.3-qter duplication and Xpter-p11 deletion caused by maternal balanced chromosomal translocation.
10.3760/cma.j.cn511374-20210918-00761
- Author:
Lin LIN
1
;
Chen ZHAO
;
Yanchun LV
;
Xiangyu ZHAO
;
Lin LI
Author Information
1. Institute of Genetics, Linyi People's Hospital, Linyi, Shandong 276000, China. lilinxy1996@sina.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Banding;
Chromosome Deletion;
Genetic Testing;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Translocation, Genetic
- From:
Chinese Journal of Medical Genetics
2022;39(5):514-517
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the clinical phenotype and genetic diagnosis of an infant featuring multiple hair and hyperbilirubinemia.
METHODS:Conventional G-banding analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) for the patient were conducted, G-banding analyses of peripheral blood for the infant's parents were also performed.
RESULTS:We investigated an infant who carries a unbalanced, maternally inherited karyotype 46, X, der (X) t (X;1) (p11.22; q21.3) in which CMA and FISH analyses disclosed a 1q21.3q44 duplication of 93.03 Mb and Xp22.33p11.22 deletion of 54.53 Mb.
CONCLUSION:The phenotypes of this infant can probably be attributed to the 1q21.3q44 duplication and Xp22.33p11.22 deletion, which were maternally inherited.
