Literature DB >> 9316134

Prenatal diagnosis of partial trisomy 2q. Case report.

A Matos1, A Nogueira, B Criado, S Pereira, S Castedo, N Montenegro.   

Abstract

A case of partial trisomy 2(q21q33) detected by cordocentesis at 27 weeks' gestation in a polymalformed fetus is described. This is the second case of a prenatally detected de novo duplication of 2q and the first involving the region referred to above.

Mesh：

Year:  1997        PMID： 9316134     DOI： 10.1002/(sici)1097-0223(199709)17:9<874::aid-pd149>3.0.co;2-a

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  3 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.  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
  3 in total

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