Literature DB >> 19638687

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature.

Z Powis1, R P Erickson.   

Abstract

Mosaic trisomy 20 is one of the most commonly reported chromosome abnormalities detected prenatally, but is rare postnatally. Many studies have hypothesized that uniparental disomy (UPD) may play a role in phenotype variability, but this has not been widely studied. Here we report an additional case of mosaic trisomy 20 with altered pigmentation, in which UPD was not found, and we review the literature.

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Year:  2009        PMID： 19638687     DOI： 10.1007/BF03195686

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


  16 in total

1.  Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): a case report with long-term outcome.

Authors:  N Steinberg Warren; S Soukup; J L King; P St J Dignan
Journal:  Prenat Diagn       Date:  2001-12       Impact factor: 3.050

2.  A revisit of trisomy 20 mosaicism in prenatal diagnosis--an overview of 103 cases.

Authors:  L Y Hsu; S Kaffe; T E Perlis
Journal:  Prenat Diagn       Date:  1991-01       Impact factor: 3.050

3.  Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis.

Authors:  Voula Velissariou; Thalia Antoniadi; Jolanda Gyftodimou; Katerina Bakou; Maria Grigoriadou; Stavroula Christopoulou; Athina Hatzipouliou; Jackie Donoghue; Panagiotis Karatzis; Efstathia Katsarou; Michael B Petersen
Journal:  Eur J Hum Genet       Date:  2002-11       Impact factor: 4.246

4.  Prenatally detected trisomy 20 mosaicism.

Authors:  W P Robinson; B McGillivray; M E S Lewis; L Arbour; I Barrett; D K Kalousek
Journal:  Prenat Diagn       Date:  2005-03       Impact factor: 3.050

5.  Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20.

Authors:  I S Salafsky; S N MacGregor; U Claussen; F von Eggeling
Journal:  Prenat Diagn       Date:  2001-10       Impact factor: 3.050

6.  Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

Authors:  L C Wilson; M E Oude Luttikhuis; P T Clayton; W D Fraser; R C Trembath
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

7.  Maternal UPD 20 in a hyperactive child with severe growth retardation.

Authors:  I Chudoba; Y Franke; G Senger; G Sauerbrei; S Demuth; V Beensen; A Neumann; I Hansmann; U Claussen
Journal:  Eur J Hum Genet       Date:  1999-07       Impact factor: 4.246

Review 8.  Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies.

Authors:  Regina E Ensenauer; William J Shaughnessy; Syed M Jalal; D Brian Dawson; Laura K Courteau; Jay W Ellison
Journal:  Am J Med Genet A       Date:  2005-04-15       Impact factor: 2.802

Review 9.  Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosis.

Authors:  Anke Hartmann; Uta B Hofmann; Holger Hoehn; Eva B Broecker; Henning Hamm
Journal:  Pediatr Dermatol       Date:  2004 Nov-Dec       Impact factor: 1.588

10.  Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies.

Authors:  Charles P Venditti; Piper Hunt; Alan Donnenfeld; Elaine Zackai; Nancy B Spinner
Journal:  Am J Med Genet A       Date:  2004-01-30       Impact factor: 2.802
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  3 in total

Review 1.  Preimplantation genetic screening: does it help or hinder IVF treatment and what is the role of the embryo?

Authors:  Kim Dao Ly; Ashok Agarwal; Zsolt Peter Nagy
Journal:  J Assist Reprod Genet       Date:  2011-07-09       Impact factor: 3.412

2.  Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.

Authors:  Pierpaola Tannorella; Daniele Minervino; Sara Guzzetti; Alessandro Vimercati; Luciano Calzari; Giuseppa Patti; Mohamad Maghnie; Anna Elsa Maria Allegri; Donatella Milani; Giulietta Scuvera; Milena Mariani; Piergiorgio Modena; Angelo Selicorni; Lidia Larizza; Silvia Russo
Journal:  Genes (Basel)       Date:  2021-04-17       Impact factor: 4.096

3.  Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

Authors:  Surabhi Mulchandani; Elizabeth J Bhoj; Minjie Luo; Nina Powell-Hamilton; Kim Jenny; Karen W Gripp; Miriam Elbracht; Thomas Eggermann; Claire L S Turner; I Karen Temple; Deborah J G Mackay; Holly Dubbs; David A Stevenson; Leah Slattery; Elaine H Zackai; Nancy B Spinner; Ian D Krantz; Laura K Conlin
Journal:  Genet Med       Date:  2015-08-06       Impact factor: 8.822
  3 in total

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