Literature DB >> 8872042

A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation.

S Ramsden1, L Gaunt, A Seres-Santamaria, J Clayton-Smith.   

Abstract

A male child has been identified with Angelman syndrome. He has been shown to carry a de novo Robertsonian 15/15 translocation where both chromosome 15s have been derived from the father. Consequently the disease in this instance is due to paternal uniparental disomy.

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Year:  1996        PMID： 8872042     DOI： 10.1017/s0001566000001410

Source DB:  PubMed          Journal:  Acta Genet Med Gemellol (Roma)        ISSN： 0001-5660


  3 in total

Review 1.  Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.

Authors:  D Kotzot
Journal:  J Med Genet       Date:  2001-08       Impact factor: 6.318

2.  Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.

Authors:  Emese Horváth; Zsuzsanna Horváth; Dóra Isaszegi; Gyurgyinka Gergev; Nikoletta Nagy; János Szabó; László Sztriha; Márta Széll; Emőke Endreffy
Journal:  Mol Cytogenet       Date:  2013-09-08       Impact factor: 2.009

3.  Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients.

Authors:  Haibei Li; Haiqi Yang; Nan Lv; Caiyun Ma; Jingjie Li; Qing Shang
Journal:  Mol Med Rep       Date:  2019-06-05       Impact factor: 2.952
  3 in total

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