Genetic analysis of a child with mosaicism Turner syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1566-1569, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-1009342
ABSTRACT
OBJECTIVE@#To explore the genetic characteristics of a child with mosaicism Turner syndrome.@*METHODS@#A child who had presented at Linyi People's Hospital on May 19, 2022 due to short stature was selected as the study subject. The child was subjected to combined chromosomal karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA).@*RESULTS@#The child was found to have a 46,X,i(X)(q10)[94]/45,X[6] karyotype. The result of FISH was nucish(XYpter,XYqter)1[78]/(XYpter)1,(XYqter)3[122]. CMA result for her peripheral blood sample was arr[hg19]Xp22.33p11.1(168551_58526888)×1, and that for her oral mucosal cells was arr[hg19]Xp22.33p11.1(168551_58526888)1-2,Xq11.2q28(63000001_155233098)×2-3. By integrating the above findings, her molecular karyotype was determined as mos 46,X,i(X)(q10)[94]/45,X[6].arr[hg19]Xp22.33p11.1(168551_58526888)×1-2,Xq11.2q28(63000001_155233098)×2-3.nucish(XYpter)1,(XYqter)3[122]/(XYpter,XYqter)1[78], which has indicated mosaicism Turner syndrome.@*CONCLUSION@#The 46,X,i(X)(q10)/45,X mosaicism probably underlay the pathogenesis in this child.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Síndrome de Turner
/
Hibridación Fluorescente in Situ
/
Cariotipo
/
Cariotipificación
/
Mosaicismo
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Artículo
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