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Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited

Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited
Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited
The details of all cytogenetic abnormalities diagnosed in the Wessex Regional Genetics Laboratory (WRGL) since 1967 to the present day have been recorded in the Salisbury Treasury of Interesting Chromosomes (STOIC). From this resource, we identified 137 patients with constitutional autosomal supernumerary marker chromosomes (SMC) ascertained in four principal groups: (i) 37% with abnormal phenotypes; (ii) 7% couples with reproductive difficulties; (iii) 47% antenatal diagnoses and (iv) 9% miscellaneous. Overall, 81 (59%) SMCs were mosaics and 56 (41%) nonmosaics. Of the 109 cases with known parental origins, 70% were de novo, 19% maternally and 11% paternally inherited. The chromosomal origins of 112/137 (82%) of the SMCs have been determined by fluorescence in situ hybridization (FISH). In all, 36/112 (32%) were derived from nonacrocentric autosomes, and 76/112 (68%) from the acrocentric autosomes 13/21, 14, 15 and 22. Of these acrocentric SMCs, 39 (51%) were derived from chromosome 15, so that SMC(15) constituted 39/112 (35%) of all SMCs with known chromosomal origins. The frequencies with which mosaicism was observed varied considerably according to the chromosomal origin of the SMCs and accounted for 8/39 (20%) SMC(15), 13/37 (35%) SMCs from other acrocentrics and 25/36 (69%) of nonacrocentric SMCs. The data were analysed for parental age effects, and only de novo SMC(15)s were found to be associated with a significantly increased maternal age.
supernumerary marker chromosomes, maternal age, parental origin, chromosomal origin, fluorescence in situ hybridization (fish), mosaicism
1018-4813
154-160
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Youings, Sheila A.
8d6377a2-da80-4d54-9956-9b0deca6debe
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Youings, Sheila A.
8d6377a2-da80-4d54-9956-9b0deca6debe
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b

Crolla, John A., Youings, Sheila A., Ennis, Sarah and Jacobs, Patricia A. (2005) Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited. European Journal of Human Genetics, 13 (2), 154-160. (doi:10.1038/sj.ejhg.5201311).

Record type: Article

Abstract

The details of all cytogenetic abnormalities diagnosed in the Wessex Regional Genetics Laboratory (WRGL) since 1967 to the present day have been recorded in the Salisbury Treasury of Interesting Chromosomes (STOIC). From this resource, we identified 137 patients with constitutional autosomal supernumerary marker chromosomes (SMC) ascertained in four principal groups: (i) 37% with abnormal phenotypes; (ii) 7% couples with reproductive difficulties; (iii) 47% antenatal diagnoses and (iv) 9% miscellaneous. Overall, 81 (59%) SMCs were mosaics and 56 (41%) nonmosaics. Of the 109 cases with known parental origins, 70% were de novo, 19% maternally and 11% paternally inherited. The chromosomal origins of 112/137 (82%) of the SMCs have been determined by fluorescence in situ hybridization (FISH). In all, 36/112 (32%) were derived from nonacrocentric autosomes, and 76/112 (68%) from the acrocentric autosomes 13/21, 14, 15 and 22. Of these acrocentric SMCs, 39 (51%) were derived from chromosome 15, so that SMC(15) constituted 39/112 (35%) of all SMCs with known chromosomal origins. The frequencies with which mosaicism was observed varied considerably according to the chromosomal origin of the SMCs and accounted for 8/39 (20%) SMC(15), 13/37 (35%) SMCs from other acrocentrics and 25/36 (69%) of nonacrocentric SMCs. The data were analysed for parental age effects, and only de novo SMC(15)s were found to be associated with a significantly increased maternal age.

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Published date: 2005
Keywords: supernumerary marker chromosomes, maternal age, parental origin, chromosomal origin, fluorescence in situ hybridization (fish), mosaicism

Identifiers

Local EPrints ID: 24667
URI: https://eprints.soton.ac.uk/id/eprint/24667
ISSN: 1018-4813
PURE UUID: 1afe3935-250f-4a60-86ad-ea862f91bc8e
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869

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Date deposited: 03 Apr 2006
Last modified: 31 Jan 2019 01:37

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Author: John A. Crolla
Author: Sheila A. Youings
Author: Sarah Ennis ORCID iD
Author: Patricia A. Jacobs

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