Literature DB >> 6683075

Interstitial deletion 2q31 leads to q33.

P D Buchanan, R L Rhodes, C E Stevenson.   

Abstract

We present an 8-month-old female with severe retardation of growth and development, multiple congenital anomalies, and an interstitial deletion del(2)(q31 leads to q33) including results of cytogenetic and gene marker studies. The manifestations of this infant are compared with those of four other known patients with a partial del(2q).

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Year:  1983        PMID： 6683075     DOI： 10.1002/ajmg.1320150116

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

1.  Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase.

Authors:  B Dallapiccola; G Novelli; A Giannotti
Journal:  Hum Genet       Date:  1988-05       Impact factor: 4.132

2.  Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

Authors:  I A Glass; C A Swindlehurst; D A Aitken; W McCrea; E Boyd
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

3.  Mouse and hamster mutants as models for Waardenburg syndromes in humans.

Authors:  J H Asher; T B Friedman
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

4.  Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3).

Authors:  Louise Gallagher; Kristin Becker; Geraldine Kearney; Adam Dunlop; Ray Stallings; Andrew Green; Michael Fitzgerald; Michael Gill
Journal:  J Autism Dev Disord       Date:  2003-02

5.  Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

Authors:  Jill A Rosenfeld; Blake C Ballif; Ann Lucas; Edward J Spence; Cynthia Powell; Arthur S Aylsworth; Beth A Torchia; Lisa G Shaffer
Journal:  PLoS One       Date:  2009-08-10       Impact factor: 3.240
  5 in total

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