Τίτλος:
A prenatally ascertained, maternally inherited 14.8Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2013 Elsevier B.V.
Συγγραφείς:
Sismani, C.
Donoghue, J.
Alexandrou, A.
Karkaletsi, M.
Christopoulou, S.
Konstantinidou, A.E.
Livanos, P.
Patsalis, P.C.
Velissariou, V.
Περιοδικό:
Genes and Nutrition
Λέξεις-κλειδιά:
adult; amniocentesis; article; autolysis; autopsy; brain ventricle dilatation; case report; chromosome analysis; chromosome band; chromosome duplication; comparative genomic hybridization; congenital disorder; dysmaturity; erythropoiesis; esophagus atresia; female; fetus; fetus death; genetic association; genetic counseling; hepatosplenomegaly; human; hydramnios; hypertelorism; male; micrognathia; nasal speech; nuchal translucency measurement; pregnancy termination; prenatal diagnosis; priority journal; skeleton malformation; X chromosome, [dUTP]; ABCB7; add; additional material of unknown origin; alpha thalassemia/mental retardation syndrome, X-linked gene; array CGH; Array CGH; array comparative genomic hybridization; ATP-b, member 7 gene binding cassette, subfamily B; ATP7A; ATPase Cu(2+)-transporting, alpha polypeptide gene; ATRX; bromodomain and WD repeat containing protein 3 gene; BRWD3; CHM; choroideremia gene; Cy5-dUTP; CyDye coupled deoxyuridine triphosphate; deoxyuridine triphosphate; dup; duplication; Duplication; G-bands produced by trypsin using Giemsa; GTG-banding; magnesium transporter 1 gene; MAGT1; mat; maternal origin; normal value; NV; PGK1; phosphoglycerate kinase 1 gene; POF1B; POU domain, class 3, transcription factor 4 gene; POU3F4; premature ovarian failure 1B; Prenatal; QF-PCR; quantitative fluorescence polymerase chain reaction; SLC16A2; solute carrier family 16 gene; t-box 22 gene; TBX22; Xq13.2-q21.31; ZDHHC15; zinc finger DHHC domain containing protein 15 gene; zinc finger protein 711 gene; ZNF711, Abnormalities, Multiple; Adult; Amniocentesis; Chromosome Duplication; Chromosomes, Human, X; Comparative Genomic Hybridization; Congenital Abnormalities; Female; Fetus; Humans; Male; Nuchal Translucency Measurement; Pregnancy; Prenatal Diagnosis
DOI:
10.1016/j.gene.2013.08.032
