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
Dans Chinois
| WPRIM
| ID: wpr-879591
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Translocation génétique
/
Zébrage chromosomique
/
Hybridation fluorescente in situ
/
Chromosomes X humains
/
Caryotypage
Limites du sujet:
Enfant
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2021
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS