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

Abstract

Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also present a review of the literature on non-urinary tract malformations in females with 47,XXX. We conclude that prenatal identification of the 47,XXX karyotype is an indication for detailed fetal ultrasonography which should include examination of multiple organ systems. Such prenatal screening for possible associated congenital malformations should help to ensure optimal perinatal clinical management of 47,XXX cases.

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

“…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).…”

“…1,2 There are several reports describing X-chromosome duplication in association with gastrointestinal anomalies. 6 This prompted us to evaluate retrospectively the cytogenetic results in our EA/TEF cohort.…”

Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX

“…Some types of congenital malformations have been reported, of which genitourinary anomalies are the most frequent, in particular renal ones. There have been only sporadic reports of gastrointestinal anomalies like intestinal atresia, omphalocele and encephalocele …”

“…8 Some types of congenital malformations have been reported, of which genitourinary anomalies 9 are the most frequent, in particular renal ones. There have been only sporadic reports of gastrointestinal anomalies like intestinal atresia, 10,11 omphalocele and encephalocele. 11 In conclusion, we found an association between hydrops fetalis with massive chylothorax and true mosaicism 47,XXX/46,XX, which can be added to the only previously reported case with the 47,XXX genotype.…”

“…There have been only sporadic reports of gastrointestinal anomalies like intestinal atresia, 10,11 omphalocele and encephalocele. 11 In conclusion, we found an association between hydrops fetalis with massive chylothorax and true mosaicism 47,XXX/46,XX, which can be added to the only previously reported case with the 47,XXX genotype. 7 However, further evidence is necessary to confirm this possible relation.…”