Literature DB >> 6716416

A case of deletion 2q35----qter and a peculiar phenotype.

J M Sánchez, A M Pantano.   

Abstract

A girl with a high and microbrachycephalic cranium (but without craniosynostosis), antimongoloid palpebral fissures, external strabismus, microsomy, a peculiarly shaped nose, soft tissue syndactyly in the right hand and both feet, and psychomotor retardation was found to have a deletion of chromosome 2 (q35----qter) and a Robertsonian translocation 13;14 inherited from her healthy father. The girl's phenotype is compared with the only other case reported involving a similar deletion.

Entities:  

Mesh：

Year:  1984        PMID： 6716416      PMCID： PMC1049247          DOI： 10.1136/jmg.21.2.147

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.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

3.  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

4.  Partial monosomy of chromosome 2. Delineable syndrome of deletion 2 (q23-q31).

Authors:  F Shabtai; D Klar; I Halbrecht
Journal:  Ann Genet       Date:  1982

5.  Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.

Authors:  C E Jackson; L Weiss; W A Reynolds; T F Forman; J A Peterson
Journal:  J Pediatr       Date:  1976-06       Impact factor: 4.406
  5 in total
  5 in total

1.  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

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

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

4.  The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Authors:  Camille Leroy; Emilie Landais; Sylvain Briault; Albert David; Olivier Tassy; Nicolas Gruchy; Bruno Delobel; Marie-José Grégoire; Bruno Leheup; Laurence Taine; Didier Lacombe; Marie-Ange Delrue; Annick Toutain; Agathe Paubel; Francine Mugneret; Christel Thauvin-Robinet; Stéphanie Arpin; Cedric Le Caignec; Philippe Jonveaux; Mylène Beri; Nathalie Leporrier; Jacques Motte; Caroline Fiquet; Olivier Brichet; Monique Mozelle-Nivoix; Pascal Sabouraud; Nathalie Golovkine; Nathalie Bednarek; Dominique Gaillard; Martine Doco-Fenzy
Journal:  Eur J Hum Genet       Date:  2012-10-17       Impact factor: 4.246

5.  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
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.