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

被引:80
作者
Fisher, AM [1 ]
Thomas, NS
Cockwell, A
Stecko, O
Kerr, B
Temple, IK
Clayton, P
机构
[1] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury SP2 8BJ, Wilts, England
[2] Univ Southampton, Div Human Genet, Southampton SO16 6YD, Hants, England
[3] Royal Manchester Childrens Hosp, Dept Cytogenet, Manchester M27 4HA, Lancs, England
[4] Royal Manchester Childrens Hosp, Dept Clin Genet, Manchester M27 4HA, Lancs, England
[5] Southampton Univ Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
[6] Univ Manchester, Endocrine Sci Res Grp, Manchester M13 9PT, Lancs, England
基金
英国惠康基金;
关键词
D O I
10.1007/s00439-002-0787-2
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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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页码:290 / 296
页数:7
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