Genetic study of a child carrying a maternally derived unbalanced 46,Y,der(X)t(X;Y)(p22;q11) chromosomal translocation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 376-379, 2021.
Article
in Zh
| WPRIM
| ID: wpr-879591
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child featuring short stature, saddle nose, cryptorchidism and mental retardation.@*METHODS@#The child and his parents were subjected to G-banded karyotyping and chromosomal microarray analysis (CMA).@*RESULTS@#The child was found to have a 46,Y,der(X)t(X;Y)(p22;q11)mat karyotype. CMA has revealed a 8.3 Mb deletion at Xp22.33p22.31 and a 43.3 Mb duplication at Yq11.221qter. His mother had a karyotype of 46,X,der(X)t(X;Y)(p22;q11). His father had a normal karyotype.@*CONCLUSION@#The child has carried an unbalanced translocation der(X)t(X;Y) (p22;q11) derived from his mother. His clinical phenotype has correlated with the size and position of X chromosome deletion. Compared with the females, abnormal phenotypes such as mental retardation and growth retardation of male carriers are more severe.
Full text:
1
Index:
WPRIM
Main subject:
Translocation, Genetic
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Chromosome Banding
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In Situ Hybridization, Fluorescence
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Chromosomes, Human, X
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Karyotyping
Limits:
Child
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Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article