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Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
Paternal duplications of distal 11p result in Beckwith Wiedemann syndrome (BWS), whereas maternal duplications have not, to our knowledge, been reported previously in the literature. We present three unrelated patients with maternal duplications of distal 11p. Patient 1 is a 31-year-old female with a de novo inverted duplication of distal 11p, i.e. inv dup del(11)(qterMp15.5::p15.5M15.3); this rearrangement was shown to be maternal in origin by microsatellite analysis and methylation-specific polymerase chain reaction. Patient 2 is a 4-year-old female with a derived chromosome 20, which arose from adjacent 1 malsegregation of a maternal t(11;20)(p15.3;q13.33). Patient 3 presented as an intrauterine death with trisomy for the majority of chromosome 11p as a result of 3:1 segregation of a maternal t(11;15)(p11.2;q11.2). In view of the imprinted status of this region, it is pertinent that none of our patients showed features of BWS; indeed, all had growth retardation, in contrast to the overgrowth characteristic of BWS. It is of note that, of the living patients, Patient 1 went into early puberty at 9.5 years and Patient 2 showed breast development in infancy. Both patients shared some dysmorphological features, namely short palpebral fissures, a prominent nasal tip, a short philtrum and 5th finger clinodactyly.
0340-6717
290-296
Fisher, Andrew M.
31039239-e7e6-41d4-8a11-8bdbf68c8030
Thomas, Simon N.
6aac3e46-688d-4ad8-81ed-b7a667f4f20d
Cockwell, Annette
d3f02aab-aef5-4fac-b09b-6b95e8025619
Stecko, Olga
ad54fe45-a911-4f33-8476-101c21bd1f65
Kerr, Bronwyn
7c6437d3-86bf-4216-aa7f-303e691aad49
Temple, Karen I.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Clayton, Peter
9a9e0492-48b6-4de2-b141-bd6461b6e536
Fisher, Andrew M.
31039239-e7e6-41d4-8a11-8bdbf68c8030
Thomas, Simon N.
6aac3e46-688d-4ad8-81ed-b7a667f4f20d
Cockwell, Annette
d3f02aab-aef5-4fac-b09b-6b95e8025619
Stecko, Olga
ad54fe45-a911-4f33-8476-101c21bd1f65
Kerr, Bronwyn
7c6437d3-86bf-4216-aa7f-303e691aad49
Temple, Karen I.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Clayton, Peter
9a9e0492-48b6-4de2-b141-bd6461b6e536

Fisher, Andrew M., Thomas, Simon N., Cockwell, Annette, Stecko, Olga, Kerr, Bronwyn, Temple, Karen I. and Clayton, Peter (2002) Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Human Genetics, 111 (3), 290-296. (doi:10.1007/s00439-002-0787-2).

Record type: Article

Abstract

Paternal duplications of distal 11p result in Beckwith Wiedemann syndrome (BWS), whereas maternal duplications have not, to our knowledge, been reported previously in the literature. We present three unrelated patients with maternal duplications of distal 11p. Patient 1 is a 31-year-old female with a de novo inverted duplication of distal 11p, i.e. inv dup del(11)(qterMp15.5::p15.5M15.3); this rearrangement was shown to be maternal in origin by microsatellite analysis and methylation-specific polymerase chain reaction. Patient 2 is a 4-year-old female with a derived chromosome 20, which arose from adjacent 1 malsegregation of a maternal t(11;20)(p15.3;q13.33). Patient 3 presented as an intrauterine death with trisomy for the majority of chromosome 11p as a result of 3:1 segregation of a maternal t(11;15)(p11.2;q11.2). In view of the imprinted status of this region, it is pertinent that none of our patients showed features of BWS; indeed, all had growth retardation, in contrast to the overgrowth characteristic of BWS. It is of note that, of the living patients, Patient 1 went into early puberty at 9.5 years and Patient 2 showed breast development in infancy. Both patients shared some dysmorphological features, namely short palpebral fissures, a prominent nasal tip, a short philtrum and 5th finger clinodactyly.

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Published date: 2002

Identifiers

Local EPrints ID: 24700
URI: http://eprints.soton.ac.uk/id/eprint/24700
ISSN: 0340-6717
PURE UUID: cd29b9d3-ed53-4b69-ab02-0815974b0256
ORCID for Karen I. Temple: ORCID iD orcid.org/0000-0002-6045-1781

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Date deposited: 03 Apr 2006
Last modified: 16 Mar 2024 03:03

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Contributors

Author: Andrew M. Fisher
Author: Simon N. Thomas
Author: Annette Cockwell
Author: Olga Stecko
Author: Bronwyn Kerr
Author: Karen I. Temple ORCID iD
Author: Peter Clayton

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