Literature DB >> 8411037

Deletion of chromosome 2 (p11-p13): case report and review.

V P Prasher1, V H Krishnan, D J Clarke, C T Maliszewska, J A Corbett.   

Abstract

The case of a young man with del(2) (p11.2p13) is reported. Accounts of previous cases of deletion of the short arm of chromosome 2 are reviewed. Common features include mental retardation, proportional short stature and weight, dysmorphic facial features (a prominent nose, abnormal ears), and abnormal hands. Growth and developmental delay are present during the postnatal period.

Entities:  

Mesh:

Year:  1993        PMID: 8411037      PMCID: PMC1016464          DOI: 10.1136/jmg.30.7.604

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


  3 in total

1.  A familial syndrome of short stature associated with facial dysplasia and genital anomalies.

Authors:  D Aarskog
Journal:  J Pediatr       Date:  1970-11       Impact factor: 4.406

Review 2.  Autosomal dominant inheritance of the Aarskog syndrome.

Authors:  R E Grier; F H Farrington; R Kendig; P Mamunes
Journal:  Am J Med Genet       Date:  1983-05

3.  Anomalous cerebral venous drainage in Aarskog syndrome.

Authors:  P van den Bergh; J P Fryns; G Wilms; R Piot; G Dralands; R van den Bergh
Journal:  Clin Genet       Date:  1984-03       Impact factor: 4.438

  3 in total
  3 in total

Review 1.  A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

Authors:  Jörg Seidel; Anita Heller; Gabriele Senger; Heike Starke; Ilse Chudoba; Christina Kelbova; Holger Tönnies; Heidemarie Neitzel; Claudia Haase; Volkmar Beensen; Felix Zintl; Uwe Claussen; Thomas Liehr
Journal:  Eur J Pediatr       Date:  2003-06-19       Impact factor: 3.183

2.  Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.

Authors:  Jiadi Wen; Fátima Lopes; Gabriela Soares; Sandra A Farrell; Cara Nelson; Ying Qiao; Sally Martell; Chansonette Badukke; Carlos Bessa; Bauke Ylstra; Suzanne Lewis; Nina Isoherranen; Patricia Maciel; Evica Rajcan-Separovic
Journal:  Orphanet J Rare Dis       Date:  2013-07-10       Impact factor: 4.123

3.  Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations.

Authors:  Kyung-Won Hong; Sung Soo Kim; Yeonjung Kim
Journal:  Genomics Inform       Date:  2013-09-30
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.