A prenatally ascertained, maternally inherited 14.8Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus

C. Sismani; J. Donoghue; A. Alexandrou; M. Karkaletsi; S. Christopoulou; A. E. Konstantinidou; P. Livanos; P. C. Patsalis; V. Velissariou

doi:10.1016/j.gene.2013.08.032

A prenatally ascertained, maternally inherited 14.8Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus

C. Sismani
, J. Donoghue
, A. Alexandrou
, M. Karkaletsi
, S. Christopoulou
, A. E. Konstantinidou
, P. Livanos
, P. C. Patsalis
, V. Velissariou

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	138-142
Number of pages	5
Journal	Gene
Volume	530
Issue number	1
DOIs	https://doi.org/10.1016/j.gene.2013.08.032
Publication status	Published - 1 Nov 2013
Externally published	Yes

Keywords

Array CGH
Duplication
Prenatal
Xq13.2-q21.31

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10.1016/j.gene.2013.08.032

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Sismani, C., Donoghue, J., Alexandrou, A., Karkaletsi, M., Christopoulou, S., Konstantinidou, A. E., Livanos, P., Patsalis, P. C., & Velissariou, V. (2013). A prenatally ascertained, maternally inherited 14.8Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus. Gene, 530(1), 138-142. https://doi.org/10.1016/j.gene.2013.08.032

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title = "A prenatally ascertained, maternally inherited 14.8Mb 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.",

keywords = "Array CGH, Duplication, Prenatal, Xq13.2-q21.31",

author = "C. Sismani and J. Donoghue and A. Alexandrou and M. Karkaletsi and S. Christopoulou and Konstantinidou, \{A. E.\} and P. Livanos and Patsalis, \{P. C.\} and V. Velissariou",

year = "2013",

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doi = "10.1016/j.gene.2013.08.032",

language = "English",

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Sismani, C, Donoghue, J, Alexandrou, A, Karkaletsi, M, Christopoulou, S, Konstantinidou, AE, Livanos, P, Patsalis, PC & Velissariou, V 2013, 'A prenatally ascertained, maternally inherited 14.8Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus', Gene, vol. 530, no. 1, pp. 138-142. https://doi.org/10.1016/j.gene.2013.08.032

TY - JOUR

T1 - A prenatally ascertained, maternally inherited 14.8Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus

AU - Sismani, C.

AU - Donoghue, J.

AU - Alexandrou, A.

AU - Karkaletsi, M.

AU - Christopoulou, S.

AU - Konstantinidou, A. E.

AU - Livanos, P.

AU - Patsalis, P. C.

AU - Velissariou, V.

PY - 2013/11/1

Y1 - 2013/11/1

N2 - 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.

AB - 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.

KW - Array CGH

KW - Duplication

KW - Prenatal

KW - Xq13.2-q21.31

UR - https://www.scopus.com/pages/publications/84884208593

U2 - 10.1016/j.gene.2013.08.032

DO - 10.1016/j.gene.2013.08.032

M3 - Article

C2 - 23973723

AN - SCOPUS:84884208593

SN - 0378-1119

VL - 530

SP - 138

EP - 142

JO - Gene

JF - Gene

IS - 1

ER -

A prenatally ascertained, maternally inherited 14.8Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus

Abstract

Keywords

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