title: A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.
abstract: Duplications of the X chromosome are rare cytogenetic findings, and have been associated with an abnormal phenotype in the male offspring of apparently normal or near normal female carriers. We report on the prenatal diagnosis of a duplication on the long arm of chromosome X from chromosomal band Xq13.2 to q21.31 in a male fetus with increased nuchal translucency in the first trimester and polyhydramnios at 22 weeks of gestation. Amniocentesis was undertaken and cytogenetic analysis revealed additional chromosomal material in the long arm of chromosome X at position Xq13. Analysis with high resolution array CGH revealed the additional material is in fact a duplication of the region Xq13.2-q21.13. The duplication is 14.8 Mb in size and includes fourteen genes: SLC16A2, KIAA2022, ABCB7, ZDHHC15, ATRX, MAGT1, ATP7A, PGK1, TBX22, BRWD3, POU3F4, ZNF711, POF1B and CHM. Analysis of the parents revealed the mother to be a carrier of the same duplication. After elected termination of the pregnancy at 28 weeks a detailed autopsy of the fetus allowed for genotype-phenotype correlations.
authors: Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors: C
authors: C
authors: Sismani
authors: J
authors: J
authors: Donoghue
authors: A
authors: A
authors: Alexandrou
authors: M
authors: M
authors: Karkaletsi
authors: S
authors: S
authors: Christopoulou
authors: A E
authors: AE
authors: Konstantinidou
authors: P
authors: P
authors: Livanos
authors: P C
authors: PC
authors: Patsalis
authors: V
authors: V
authors: Velissariou
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000649:Amniocentesis; D058674:Chromosome Duplication / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D000013:Congenital Abnormalities / Q000235:genetics* / Q000473:pathology; D005260:Female; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D008297:Male; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011296:Prenatal Diagnosis
keywords: ABCB7; ATP-b, member 7 gene binding cassette, subfamily B; ATP7A; ATPase Cu(2+)-transporting, alpha polypeptide gene; ATRX; Array CGH; BRWD3; CHM; Cy5-dUTP; CyDye coupled deoxyuridine triphosphate; Duplication; G-bands produced by trypsin using Giemsa; GTG-banding; MAGT1; NV; PGK1; POF1B; POU domain, class 3, transcription factor 4 gene; POU3F4; Prenatal; QF-PCR; SLC16A2; TBX22; Xq13.2–q21.31; ZDHHC15; ZNF711; [dUTP]; add; additional material of unknown origin; alpha thalassemia/mental retardation syndrome, X-linked gene; array CGH; array comparative genomic hybridization; bromodomain and WD repeat containing protein 3 gene; choroideremia gene; deoxyuridine triphosphate; dup; duplication; magnesium transporter 1 gene; mat; maternal origin; normal value; phosphoglycerate kinase 1 gene; premature ovarian failure 1B; quantitative fluorescence polymerase chain reaction; solute carrier family 16 gene; t-box 22 gene; zinc finger DHHC domain containing protein 15 gene; zinc finger protein 711 gene