Literature DB >> 6851215

Partial trisomy 2q.

R E Schumacher, A P Rocchini, G N Wilson.   

Abstract

An infant with unusual facies and anomalies of brain, heart, and kidney was found to have a simple duplication of the distal long arm of chromosome 2. The clinical features of this case refine the phenotypic spectrum of partial trisomy 2q; prior cases had more complicated chromosomal rearrangements.

Entities:  

Mesh：

Year:  1983        PMID： 6851215     DOI： 10.1111/j.1399-0004.1983.tb01871.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

1.  Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

Authors:  Maurizia Colangelo; Melissa Alfonsi; Chiara Palka; Eleonora Zio Zio; Silvana Di Renzo; Paolo Guanciali-Franchi; Giandomenico Palka
Journal:  J Genet       Date:  2018-03       Impact factor: 1.166

2.  Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.

Authors:  Stephen R Williams; Sureni V Mullegama; Jill A Rosenfeld; Aditi I Dagli; Eli Hatchwell; William P Allen; Charles A Williams; Sarah H Elsea
Journal:  Eur J Hum Genet       Date:  2009-11-11       Impact factor: 4.246

3.  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

4.  Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

Authors:  K Zerres; M C Völpel; H Weiss
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35).

Authors:  D R Romain; N G Mackenzie; D Moss; L M Columbano-Green; R H Smythe; R G Parfitt; J W Dixon
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

6.  Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Authors:  Sureni V Mullegama; Jill A Rosenfeld; Carmen Orellana; Bregje W M van Bon; Sara Halbach; Elena A Repnikova; Lauren Brick; Chumei Li; Lucie Dupuis; Monica Rosello; Swaroop Aradhya; D James Stavropoulos; Kandamurugu Manickam; Elyse Mitchell; Jennelle C Hodge; Michael E Talkowski; James F Gusella; Kory Keller; Jonathan Zonana; Stuart Schwartz; Robert E Pyatt; Darrel J Waggoner; Lisa G Shaffer; Angela E Lin; Bert B A de Vries; Roberto Mendoza-Londono; Sarah H Elsea
Journal:  Eur J Hum Genet       Date:  2013-05-01       Impact factor: 4.246
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.