Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation (original) (raw)

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)(qter→p15.5::p15.5→15.3); 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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Authors and Affiliations

1. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK, UK
   Andrew M. Fisher, Simon N. Thomas & Annette Cockwell
2. Cytogenetics Department, Royal Manchester Children's Hospital, Pendlebury, Manchester, M27 4HA, UK, UK
   Olga Stecko
3. Department of Clinical Genetics, Royal Manchester Children's Hospital, Pendlebury, Manchester, M27 4HA, UK, UK
   Bronwyn Kerr
4. Wessex Clinical Genetics Service, Southampton University Hospitals Trust, Southampton, SO16 5YA, UK, UK
   Karen I. Temple
5. Endocrine Science Research Group, University of Manchester, Oxford Road, Manchester, M13 9PT, UK, UK
   Peter Clayton

Authors

1. Andrew M. Fisher
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2. Simon N. Thomas
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3. Annette Cockwell
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4. Olga Stecko
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5. Bronwyn Kerr
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6. Karen I. Temple
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7. Peter Clayton
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Fisher, A.M., Thomas, S.N., Cockwell, A. et al. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.Hum Genet 111, 290–296 (2002). https://doi.org/10.1007/s00439-002-0787-2

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• Received: 29 April 2002
• Accepted: 12 June 2002
• Published: 20 July 2002
• Issue Date: September 2002
• DOI: https://doi.org/10.1007/s00439-002-0787-2

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