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Acta Gastroenterol Latinoam ; 45(2): 129-32, 2015 Jun.
Article in Spanish | MEDLINE | ID: mdl-26353463

ABSTRACT

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.


Subject(s)
Gastrointestinal Diseases/genetics , Intestinal Obstruction/genetics , Sex Chromosome Disorders of Sex Development/complications , Child, Preschool , Chromosomes, Human, X/genetics , Female , Humans , Sex Chromosome Aberrations , Sex Chromosome Disorders of Sex Development/genetics , Trisomy/genetics
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