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Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype.

作者信息

Grange Dorothy K, Garcia-Heras Jaime, Kilani Ramzi A, Lamp Stephen

机构信息

Department of Pediatrics, Division of Medical Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

出版信息

Am J Med Genet A. 2005 Sep 1;137A(3):308-12. doi: 10.1002/ajmg.a.30877.

DOI:10.1002/ajmg.a.30877
PMID:16092120
Abstract

We report on a patient with a rec(20)dup(20q) chromosome abnormality derived from a paternal chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q.

摘要

相似文献

1
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2
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引用本文的文献

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Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.伴有巨脑、额颞叶多小脑回畸形、多指和脑积水的不平衡 der(5)t(5;20)易位。
Am J Med Genet A. 2010 Jun;152A(6):1488-97. doi: 10.1002/ajmg.a.33408.
2
Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20.两名同胞兄妹带有来自 20 号染色体大片段隐匿性着丝粒周围倒位的两个不相等的重组体。
Am J Med Genet A. 2010 Feb;152A(2):373-82. doi: 10.1002/ajmg.a.33219.