Occurrence of Duchenne dystrophy in Klinefelter's syndrome
| Autor: | H M Kingston, V Ramesh, R Mountford, M A Clarke, A Kelsey, M J Noronha |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Genotype Duchenne muscular dystrophy Aneuploidy Muscular Dystrophies Facial dysmorphism Klinefelter Syndrome Internal medicine medicine Humans Muscular dystrophy Family Health Family health Duchenne dystrophy S syndrome business.industry medicine.disease Pedigree Endocrinology Child Preschool Karyotyping Pediatrics Perinatology and Child Health Klinefelter syndrome business Research Article |
| Zdroj: | Archives of Disease in Childhood. 69:453-454 |
| ISSN: | 1468-2044 0003-9888 |
| DOI: | 10.1136/adc.69.4.453 |
| Popis: | A boy with Duchenne muscular dystrophy and facial dysmorphism in conjunction with Klinefelter's genotype 47XXY is presented; this is an unusual situation with two genetic errors evolving over two generations. Karyotyping should be considered in boys with Duchenne muscular dystrophy who have unusual features. |
| Databáze: | OpenAIRE |
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