Clinical genetic analysis of an infant with 1q21.3-qter duplication and Xpter-p11 deletion caused by maternal balanced chromosomal translocation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 514-517, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-928448
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Translocation, Genetic
/
Genetic Testing
/
Chromosome Banding
/
Chromosome Deletion
/
In Situ Hybridization, Fluorescence
/
Karyotyping
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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