Literature DB >> 6876110

Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

R S Young, S D Shapiro, K L Hansen, L K Hine, D E Rainosek, F A Guerra.   

Abstract

We describe the clinical and cytogenetic findings of two patients with deletions of the long arm of chromosome 2. One has an interstitial deletion identical to that found in a previously reported patient, although they are phenotypically dissimilar. The other patient has a terminal deletion, the first such deletion reported to date.

Entities:  

Mesh：

Year:  1983        PMID： 6876110      PMCID： PMC1049045          DOI： 10.1136/jmg.20.3.199

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  [A girl with a deletion (2) (q34q36): cytogenetic and clinical observations (author's transl)].

Authors:  S Warter; C Lausecker; A Pennerath
Journal:  Hum Genet       Date:  1976-05-19       Impact factor: 4.132

2.  Autosomal translocation in a mentally retarded male child with 46,XY,t(2q-;13q+) complement. Case report and review.

Authors:  P Genest; R Lachance; J Poty; D Jacob
Journal:  J Med Genet       Date:  1971-12       Impact factor: 6.318

Review 3.  Interstitial deletion of the long arm of chromosome 2: case report and review of literature.

Authors:  K Taysi; D R Dengler; L A Jones; J R Heersma
Journal:  Ann Genet       Date:  1981

4.  Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18: case report with autopsy.

Authors:  T S McConnell; M Kornfeld; G McClellan; J Aase
Journal:  Hum Pathol       Date:  1980-03       Impact factor: 3.466

5.  Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24).

Authors:  J P Fryns; B Van Bosstraeten; H Malbrain; H Van den Berghe
Journal:  Hum Genet       Date:  1977-11-10       Impact factor: 4.132
  5 in total
  12 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.  Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.

Authors:  P E Lundbech; T Thøgersen
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

3.  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

4.  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

Review 5.  Deletion of chromosome 2q37 and autism: a distinct subtype?

Authors:  M Ghaziuddin; M Burmeister
Journal:  J Autism Dev Disord       Date:  1999-06

6.  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

7.  Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.

Authors:  Natalia T Leach; Yi Sun; Sebastien Michaud; Yi Zheng; Keith L Ligon; Azra H Ligon; Thomas Sander; Bruce R Korf; Weining Lu; David J Harris; James F Gusella; Richard L Maas; Bradley J Quade; Andrew J Cole; Max B Kelz; Cynthia C Morton
Journal:  Am J Hum Genet       Date:  2007-02-12       Impact factor: 11.025

8.  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

9.  Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.

Authors:  M Moller; D García-Cruz; H Rivera; J Sánchez-Corona; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

10.  Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.

Authors:  L C Wilson; K Leverton; M E Oude Luttikhuis; C A Oley; J Flint; J Wolstenholme; D P Duckett; M A Barrow; J V Leonard; A P Read
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025
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