Genetic analysis of a child with mental retardation and hypospadia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1199-1202, 2019.
Article
en Zh
| WPRIM
| ID: wpr-781317
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To carry out genetic testing for a boy presenting with mental retardation and hypoplasia.@*METHODS@#Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism based array (SNP-array) were used to analyze the boy and his parents.@*RESULTS@#SNP-array has detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy. Chromosomal karyotyping and FISH analysis indicated that his mother had a karyotype of 46,XX,ish ins(11;2) (p15;q33q36), and that the boy has carried an abnormal chromosome 11 derived from the maternal translocation. The karyotype of the boy was ascertained as 46,XY,ish der(11)ins(11;2) (p15;q33q36)mat.@*CONCLUSION@#SNP-array combined with G-banding and FISH can delineate the cryptic translocation and is valuable for the assessment of recurrence risk for subsequent pregnancies.
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Translocación Genética
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Pruebas Genéticas
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Bandeo Cromosómico
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Hibridación Fluorescente in Situ
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Polimorfismo de Nucleótido Simple
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Duplicación Cromosómica
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Genética
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Hipospadias
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Cariotipificación
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Discapacidad Intelectual
Tipo de estudio:
Prognostic_studies
Límite:
Child
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Female
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Humans
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Male
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Article