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.
Artigo
em Chinês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Translocação Genética
/
Testes Genéticos
/
Bandeamento Cromossômico
/
Deleção Cromossômica
/
Hibridização in Situ Fluorescente
/
Cariotipagem
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Artigo
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