A de novo marker chromosome 15 in a child with isolated developmental delay.
J Genet
; 992020.
Article
en En
| MEDLINE
| ID: mdl-33021245
We report a rare case of a 14-month-old male child who was referred for developmental delay. Clinical examination revealed a hypotonic infant with speech delay and no dysmorphic features. The banding cytogenetics revealed a small supernumerary marker chromosome. Upon silver staining, the marker showed the presence of satellite regions on either ends. Further, analysis using fluorescence in situ hybridization on marker chromosome revealed its origin from chromosome 15.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 15
/
Marcadores Genéticos
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Discapacidades del Desarrollo
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Aberraciones Cromosómicas
Tipo de estudio:
Prognostic_studies
Límite:
Humans
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Infant
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Male
Idioma:
En
Revista:
J Genet
Año:
2020
Tipo del documento:
Article
País de afiliación:
India
Pais de publicación:
India