47,XXX associated with malformations

Structural and numerical changes of chromosome X in patients with esophageal atresia

“…In a recent European study of the EUROCAT working group, 0.054 triple X patients/1000 births were observed. 26 In our EA/TEF cohort, the incidence rate of Chromosome X changes in patients with EA/TEF E Brosens et al triple X syndrome is 1.12%, with an average maternal age of 30.8 years, which is 11 times higher than that in the estimated general population and 6.5 times higher than in the calculated incidence rate by Haverty et al 25 Guichet et al 27 reviewed prenatally and postnatally diagnosed 47,XXX karyotypes from 18 laboratories. Mental retardation or congenital malformations were described in over one-third of the 190 patients reported.…”

“…Gastrointestinal anomalies, including atresia of the esophagus and duodenum and jejunum as well as omphalocele and anorectal malformations, have been reported sporadically. 6,25,[30][31][32][33][34][35][36] All 13 reported patients with gastrointestinal and/or foregut-related anomalies are reviewed in Table 2. The patient described by Hoang et al 32 shows a similar phenotype compared to our patients: higher mesodermal defects (EA) and lower mesodermal defects (anal atresia, genitourinary defects).…”

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

“…Although congenital structural heart defects are known to be in the clinical spectrum of trisomy X (Haverty et al. 2004; Roth et al. 2006; Bagci et al.…”

Intestinal Atresia, Encephalocele, and Cardiac Malformations in Infants with 47,XXX: Expansion of the Phenotypic Spectrum and a Review of the Literature

“…A number of reports, however, suggest that females with 47,XXX have an increased risk of urinary tract anomalies and ovarian dysfunction [3][4][5][6] . They are often reported to be of tall stature [2] and to have distinct phenotypic features such as hypertelorism and widely spaced nipples [7] .…”

“…Various types of malformations have been reported in 47,XXX females, of which urinary tract anomalies, in particular renal anomalies, are the most commonly reported defects [2] . Postnatal ultrasonographic examination of the pelvis and abdomen in all females with 47,XXX has thus been proposed [4] .…”