Double Trisomy 48,XXY,+21 in a Neonate with Congenital Heart Disease.
Arch Iran Med
; 23(5): 356-358, 2020 05 01.
Article
em En
| MEDLINE
| ID: mdl-32383621
ABSTRACT
Double trisomy 48, XXY, +21 or Down-Klinefelter syndrome is a rare occurrence and presents clinical manifestation of trisomy 21 in early life and of Klinefelter syndrome after 10 months of age. The phenotypic and karyotyping characteristics of a 2-month-old boy were reported. He had mild clinical feature of Down syndrome and echocardiographic features of atrioventricular (AV) septal defects with severe pulmonary valve stenosis.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Estenose da Valva Pulmonar
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Síndrome de Down
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Comunicação Interventricular
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Síndrome de Klinefelter
Limite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Arch Iran Med
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Irã