Rare association of Turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex.
Indian J Hum Genet
;
2009 May; 15(2): 75-77
Artículo
en Inglés
| IMSEAR
| ID: sea-138875
ABSTRACT
We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XOkaryotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant café-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proband in the family also suffered from Tuberous Sclerosis without the manifestation of Neurofibromatosis or any other genetic disorders. We hypothesize that these associations could be due to new independent mutations and also increased maternal and paternal age in a pre-disposition of Turner syndrome.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Esclerosis Tuberosa
/
Síndrome de Turner
/
Femenino
/
Humanos
/
Neurofibromatosis 1
/
Hermanos
/
Adulto Joven
Idioma:
Inglés
Revista:
Indian J Hum Genet
Año:
2009
Tipo del documento:
Artículo
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