Literature DB >> 24840838

Concurrent psu dic(21)(q22.3) and t(13;17)(q14.1;p12) in a mosaic Down's syndrome patient: review of thirty-one similar dicentrics.

Horacio Rivera1, Ana I Vásquez-Velásquez.   

Abstract

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Year:  2014        PMID： 24840838     DOI： 10.1007/s12041-014-0329-4

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  27 in total

1.  Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation.

Authors:  I Rost; H Fiegler; C Fauth; P Carr; T Bettecken; J Kraus; C Meyer; A Enders; A Wirtz; T Meitinger; N P Carter; M R Speicher
Journal:  J Med Genet       Date:  2004-03       Impact factor: 6.318

2.  De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance.

Authors:  Charlene Sibbons; Joan K Morris; John A Crolla; Patricia A Jacobs; N Simon Thomas
Journal:  Eur J Hum Genet       Date:  2011-09-28       Impact factor: 4.246

3.  A case of Down syndrome with mirror-image duplication of chromosome 21.

Authors:  Thi Minh Thi Ha; Viet Nhan Nguyen; Noralane M Lindor; Reid G Meyer; Ruhi Rai; Gopalrao V N Velagaleti
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

4.  Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder.

Authors:  H Rivera; O Zuffardi; P Maraschio; A Caiulo; C Anichini; R Scarinci; R Vivarelli
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

5.  A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region.

Authors:  Daisuke Sato; Hiroki Kawara; Osamu Shimokawa; Naoki Harada; Hidefumi Tonoki; Nobuhiro Takahashi; Yumi Imai; Hiromi Kimura; Naomichi Matsumoto; Tadashi Ariga; Norio Niikawa; Koh-ichiro Yoshiura
Journal:  Am J Med Genet A       Date:  2008-01-01       Impact factor: 2.802

6.  [Down's syndrome with G/G "tandem" translocation (author's transl)].

Authors:  I López Pajares; E Barreiro; A Delicado
Journal:  An Esp Pediatr       Date:  1976 Sep-Oct

7.  Possible narrowed assignment of the loci of monosomy 21-associated microcephaly and intrauterine growth retardation to a 1.2-Mb segment at 21q22.2.

Authors:  N Matsumoto; H Ohashi; M Tsukahara; K C Kim; E Soeda; N Niikawa
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

8.  Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype.

Authors:  A Hagemeijer; E M Smit
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

9.  A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.

Authors:  María Carmen Carrascosa-Romero; Javier Suela; José Manuel Pardal-Fernández; Eva Bermejo-Sánchez; Alberto Vidal-Company; Alexandra MacDonald; Roque Tébar-Gil; María Luisa Martínez-Fernández; María Luisa Martínez-Frías
Journal:  Am J Med Genet A       Date:  2013-07-25       Impact factor: 2.802

10.  Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes.

Authors:  Julian Lange; Helen Skaletsky; Saskia K M van Daalen; Stephanie L Embry; Cindy M Korver; Laura G Brown; Robert D Oates; Sherman Silber; Sjoerd Repping; David C Page
Journal:  Cell       Date:  2009-09-04       Impact factor: 41.582
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