Cleft palate in a rare case of Variant Klinefelter syndrome with 48,XXXY/46,XY mosaicism.
Cleft Palate Craniofac J
; 46(5): 555-7, 2009 Sep.
Article
em En
| MEDLINE
| ID: mdl-19929089
ABSTRACT
Variant Klinefelter syndrome with 48,XXXY/46,XY mosaicism has been rarely reported, and its phenotypic features, compared with those of the classic type, have not been well delineated. We describe a newborn baby with phenotypic abnormalities, including cleft palate and low-set ears. The cytogenetic analysis of peripheral blood lymphocytes showed a karyotype of 48,XXXY[36]/46,XY[4]. To the best of our knowledge, this is the first case in which 48,XXXY/46,XY mosaicism was related to the congenital anomaly of cleft palate. This case underscores that cytogenetic analysis should be a mandatory workup for the patient with cleft palate and that cleft palate may be a rare clinical presentation of the variant Klinefelter syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fissura Palatina
/
Síndrome de Klinefelter
/
Mosaicismo
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Cleft Palate Craniofac J
Ano de publicação:
2009
Tipo de documento:
Article