A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities
A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities
An imbalance of genetic material, especially monosomy, will usually give rise to an abnormal phenotype. A few instances of proximal 2q deletions have been published, but previous cases (q12-q14,1 q12-q14.2,2 q14-q213 4) have been associated with clinical features such as mental retardation, facial dysmorphism, heart defects, and renal and digital anomalies.3 We ascertained an interstitial deletion of chromosome 2 at q13-q14.1 (fig 1) in a clinically normal G6, P2, SAB3 woman aged 38. She had been referred for chromosome analysis following three successive miscarriages at 81/2, before 11, and at 7 weeks' gestation. Her current pregnancy was chromosomally normal at amniocentesis and continuing at 26 weeks. Testing of her two previous children was not being pursued at the time of writing. This deletion was subsequently found to have been transmitted by her G2, P2 mother who had no associated phenotype nor history of miscarriages.
phenotype, pair 2, in situ hybridization, letter, humans, human, abnormalities, genetics, chromosome banding, adult, chromosome deletion, female, fluorescence, karyotyping, chromosomes, report
125-127
Sumption, N.D.
c8d7d3b6-41d6-4166-bfcd-5e7148239fe5
Barber, J.C.
4785a6e4-bd63-4230-ab61-41a0ae12c761
2001
Sumption, N.D.
c8d7d3b6-41d6-4166-bfcd-5e7148239fe5
Barber, J.C.
4785a6e4-bd63-4230-ab61-41a0ae12c761
Sumption, N.D. and Barber, J.C.
(2001)
A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities.
Journal of Medical Genetics, 38 (2), .
(doi:10.1136/jmg.38.2.125).
Abstract
An imbalance of genetic material, especially monosomy, will usually give rise to an abnormal phenotype. A few instances of proximal 2q deletions have been published, but previous cases (q12-q14,1 q12-q14.2,2 q14-q213 4) have been associated with clinical features such as mental retardation, facial dysmorphism, heart defects, and renal and digital anomalies.3 We ascertained an interstitial deletion of chromosome 2 at q13-q14.1 (fig 1) in a clinically normal G6, P2, SAB3 woman aged 38. She had been referred for chromosome analysis following three successive miscarriages at 81/2, before 11, and at 7 weeks' gestation. Her current pregnancy was chromosomally normal at amniocentesis and continuing at 26 weeks. Testing of her two previous children was not being pursued at the time of writing. This deletion was subsequently found to have been transmitted by her G2, P2 mother who had no associated phenotype nor history of miscarriages.
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Published date: 2001
Keywords:
phenotype, pair 2, in situ hybridization, letter, humans, human, abnormalities, genetics, chromosome banding, adult, chromosome deletion, female, fluorescence, karyotyping, chromosomes, report
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Local EPrints ID: 60269
URI: http://eprints.soton.ac.uk/id/eprint/60269
ISSN: 0022-2593
PURE UUID: f0209472-74c2-42dd-8689-25d21fdad35e
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Date deposited: 04 Sep 2008
Last modified: 15 Mar 2024 11:19
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Author:
N.D. Sumption
Author:
J.C. Barber
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