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Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.
Hum Genet. 2002 Sep; 111(3):290-6.HG

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.

Authors+Show Affiliations

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK. wessex.genetics@dial.pipex.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12215843

Citation

Fisher, Andrew M., et al. "Duplications of Chromosome 11p15 of Maternal Origin Result in a Phenotype That Includes Growth Retardation." Human Genetics, vol. 111, no. 3, 2002, pp. 290-6.
Fisher AM, Thomas NS, Cockwell A, et al. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet. 2002;111(3):290-6.
Fisher, A. M., Thomas, N. S., Cockwell, A., Stecko, O., Kerr, B., Temple, I. K., & Clayton, P. (2002). Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Human Genetics, 111(3), 290-6.
Fisher AM, et al. Duplications of Chromosome 11p15 of Maternal Origin Result in a Phenotype That Includes Growth Retardation. Hum Genet. 2002;111(3):290-6. PubMed PMID: 12215843.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. AU - Fisher,Andrew M, AU - Thomas,N Simon, AU - Cockwell,Annette, AU - Stecko,Olga, AU - Kerr,Bronwyn, AU - Temple,I Karen, AU - Clayton,Peter, Y1 - 2002/07/20/ PY - 2002/04/29/received PY - 2002/06/12/accepted PY - 2002/9/7/pubmed PY - 2002/12/3/medline PY - 2002/9/7/entrez SP - 290 EP - 6 JF - Human genetics JO - Hum. Genet. VL - 111 IS - 3 N2 - 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. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/12215843/Duplications_of_chromosome_11p15_of_maternal_origin_result_in_a_phenotype_that_includes_growth_retardation_ L2 - https://dx.doi.org/10.1007/s00439-002-0787-2 DB - PRIME DP - Unbound Medicine ER -