Prenatal diagnosis and genetic analysis of a fetus with der(X)t(X;Y)(p22.3;q11.2) / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1287-1290, 2020.
Article
em Zh
| WPRIM
| ID: wpr-879488
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To explore the pathogenesis and genetic characteristics of a fetus with a der(X)t(X;Y)(p22.3;q11.2) karyotype.@*METHODS@#G-banding karyotyping analysis, BoBs (BACs-on-Beads) assay, and single nucleotide polymorphism array (SNP-array) were used to delineate the structural chromosomal aberration of the fetus. The parents of the fetus were also subjected to karyotyping analysis.@*RESULTS@#The fetus and its mother were both found to have a karyotype of 46,X,add(X)(p22), while the father was normal. BoBs assay indicated that there was a lack of Xp22 but a gain of Yq11 signal. SNP-array confirmed that the fetus and its mother both had a 7.13 Mb deletion at Xp22.33p22.31 (608 021-7 736 547) and gain of a 12.52 Mb fragment at Yq11.221q11.23 (16 271 151-28 788 643).@*CONCLUSION@#The fetus was determined to have a karyotype of 46,X,der(X)t(X;Y)(p22.3;q11.2)mat. The combined use of various methods has facilitated delineation of the fetal chromosomal aberration and prediction of the risk prediction for subsequent pregnancy.
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Base de dados:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
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Translocação Genética
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Bandeamento Cromossômico
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Deleção Cromossômica
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Cromossomos Humanos X
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Cromossomos Humanos Y
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Feto
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Cariotipagem
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Female
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Humans
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Male
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Pregnancy
Idioma:
Zh
Ano de publicação:
2020
Tipo de documento:
Article