title: Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.
abstract: Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.
authors.affiliation: Neonatal Unit, Department of Pediatrics, Tahar Sfar University Hospital, 5111 Mahdia, Tunisia. hechmi.benhamouda@rns.tn
authors.forename: H
authors.initials: H
authors.lastname: Ben Hamouda
authors.forename: N
authors.initials: N
authors.lastname: Mkacher
authors.forename: H
authors.initials: H
authors.lastname: Elghezal
authors.forename: H
authors.initials: H
authors.lastname: Bannour
authors.forename: M
authors.initials: M
authors.lastname: Kamoun
authors.forename: H
authors.initials: H
authors.lastname: Soua
authors.forename: A
authors.initials: A
authors.lastname: Saad
authors.forename: M M
authors.initials: MM
authors.lastname: Souissi
authors.forename: M T
authors.initials: MT
authors.lastname: Sfar
mesh_terms: D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008423:Maternal Age; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations