Literature DB >> 6607703

Diploid-triploid mosaicism: delineation of the syndrome.

A T Tharapel, R S Wilroy, P R Martens, J M Holbert, R L Summitt.   

Abstract

Two unrelated infants with multiple anomalies and diploid-triploid mosaicism are reported. A comparison of their clinical features with those of twelve published reports with 2n/3n karyotype is provided. The data reveal that 2n/3n mosaicism is a clinically recognizable syndrome.

Entities:  

Mesh：

Year:  1983        PMID： 6607703

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  6 in total

1.  46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty.

Authors:  I E Järvelä; M K Salo; P Santavuori; R K Salonen
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

2.  A partial hydatidiform mole with 2N/3N mosaicism identified by molecular analysis.

Authors:  Y Ikeda; Y Jinno; H Masuzaki; N Niikawa; T Ishimaru
Journal:  J Assist Reprod Genet       Date:  1996-10       Impact factor: 3.412

3.  Radiographic findings in liveborn triploidy.

Authors:  K G Silverthorn; C S Houston; D E Newman; B J Wood
Journal:  Pediatr Radiol       Date:  1989

Review 4.  Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.

Authors:  I T Thomas; J L Frias; E S Cantu; C Z Lafer; D B Flannery; J G Graham
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

5.  Hypomelanosis of Ito: a manifestation of mosaicism or chimerism.

Authors:  D Donnai; A P Read; C McKeown; T Andrews
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

6.  Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder.

Authors:  James J H Rucker; Katherine E Tansey; Margarita Rivera; Dalila Pinto; Sarah Cohen-Woods; Rudolf Uher; Katherine J Aitchison; Nick Craddock; Michael J Owen; Lisa Jones; Ian Jones; Ania Korszun; Michael R Barnes; Martin Preisig; Ole Mors; Wolfgang Maier; John Rice; Marcella Rietschel; Florian Holsboer; Anne E Farmer; Ian W Craig; Stephen W Scherer; Peter McGuffin; Gerome Breen
Journal:  Biol Psychiatry       Date:  2015-02-25       Impact factor: 13.382
  6 in total

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