Literature DB >> 8938070

Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation.

A L Webb1, S Sturgiss, P Warwicker, S C Robson, J A Goodship, J Wolstenholme.   

Abstract

We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal infant demonstrating maternal uniparental disomy for chromosome 2.

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Year:  1996        PMID： 8938070     DOI： 10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD971>3.0.CO;2-U

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  11 in total

Review 1.  Infantile hypertrophic pyloric stenosis--genetics and syndromes.

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Journal:  Nat Rev Gastroenterol Hepatol       Date:  2012-07-10       Impact factor: 46.802

2.  Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion.

Authors:  Sami Tsukishiro; Qing Ying Li; Mitsuyo Tanemura; Mayumi Sugiura-Ogasawara; Kaoru Suzumori; Shin-Ichi Sonta
Journal:  J Hum Genet       Date:  2005-03-04       Impact factor: 3.172

3.  Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.

Authors:  Sibel Kantarci; Nicola K Ragge; N Simon Thomas; David O Robinson; Kristin M Noonan; Meaghan K Russell; Dian Donnai; F Lucy Raymond; Christopher A Walsh; Patricia K Donahoe; Barbara R Pober
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802

4.  Is there an abnormal phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes?

Authors:  L G Shaffer; C McCaskill; C A Egli; J C Baker; K M Johnston
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

5.  Recurrent Trisomies: Chance or Inherited Predisposition?

Authors:  J E Ulm
Journal:  J Genet Couns       Date:  1999-04       Impact factor: 2.537

6.  Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

Authors:  Debra A Thompson; Christina L McHenry; Yun Li; Julia E Richards; Mohammad I Othman; Eberhard Schwinger; Douglas Vollrath; Samuel G Jacobson; Andreas Gal
Journal:  Am J Hum Genet       Date:  2001-11-27       Impact factor: 11.025

Review 7.  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

8.  Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).

Authors:  Thilo Herzfeld; Nicole Wolf; Pia Winter; Holger Hackstein; Daniel Vater; Ulrich Müller
Journal:  Neurogenetics       Date:  2008-09-23       Impact factor: 2.660

9.  Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

Authors:  Aaron Hamvas; Lawrence M Nogee; Daniel J Wegner; Kelcey Depass; John Christodoulou; Bruce Bennetts; Leon R McQuade; Peter H Gray; Robin R Deterding; Travis R Carroll; Anja Kammesheidt; Laura M Kasch; Shashikant Kulkarni; F Sessions Cole
Journal:  J Pediatr       Date:  2009-08-03       Impact factor: 4.406

10.  Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion.

Authors:  Yuko Kondo; Sami Tsukishiro; Mitsuyo Tanemura; Mayumi Sugiura-Ogasawara; Kaoru Suzumori; Shin-Ichi Sonta
Journal:  J Hum Genet       Date:  2004-03-02       Impact factor: 3.172
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