[Gastrointestinal obstruction in the mosaic trisomy X].
Trisomic X is a sex chromosomal abnormality that may be presented in mosaic. This is not extremely rare, the majority of cases go undiagnosed. The prevalence has been established to 1/1000 females. It is clinically characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. The association between the trisomic X and gastrointestinal malformations is extremely rare. We report a case of mosaic trisomic X with gastric obstruction expanding the clinical spectrum of this entity and emphasizing its unknown pathogenesis.
Francisco
F
Cammarata-Scalisi
Dianora
D
Araque
Frances
F
Stock
Mercedes
M
Molina
Raúl
R
Rodríguez
Greicy
G
Vázquez
Graciela
G
Cammarata-Scalisi
María Elena
ME
Cammarata-Scalisi
D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D005767:Gastrointestinal Diseases / Q000235:genetics*; D006801:Humans; D007415:Intestinal Obstruction / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000150:complications* / Q000235:genetics; D014314:Trisomy / Q000235:genetics