Literature DB >> 2063917

Partial deletion of chromosome 6p: delineation of the syndrome.

C G Palmer1, P Bader, M L Slovak, D E Comings, M J Pettenati.   

Abstract

Here we summarize the clinical findings of five new patients and nine patients reported in the literature with deletions of the short arm of chromosome 6. The del(6p) syndrome appears to include the following clinical findings: mental retardation, microcephaly, abnormal sutures, broad nasal bridge, various eye and ear abnormalities, a short neck with excess skin folds, and a normal birth weight and length.

Entities:  

Mesh：

Year:  1991        PMID： 2063917     DOI： 10.1002/ajmg.1320390208

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  13 in total

1.  Genomic imbalances in mental retardation.

Authors:  M Kriek; S J White; M C Bouma; H G Dauwerse; K B M Hansson; J V Nijhuis; B Bakker; G-J B van Ommen; J T den Dunnen; M H Breuning
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

2.  Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly.

Authors:  T Jordan; N Ebenezer; R Manners; J McGill; S Bhattacharya
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

3.  Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.

Authors:  A J Mears; F Mirzayans; D B Gould; W G Pearce; M A Walter
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

4.  Schizophrenia in an adult with 6p25 deletion syndrome.

Authors:  O Caluseriu; G Mirza; J Ragoussis; E W C Chow; D MacCrimmon; A S Bassett
Journal:  Am J Med Genet A       Date:  2006-06-01       Impact factor: 2.802

Review 5.  Cleidocranial dysplasia: clinical and molecular genetics.

Authors:  S Mundlos
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

6.  Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.

Authors:  Patrícia Bs Celestino-Soper; Cindy Skinner; Richard Schroer; Patricia Eng; Jayant Shenai; Malgorzata Mj Nowaczyk; Deborah Terespolsky; Donna Cushing; Gayle S Patel; Ladonna Immken; Alecia Willis; Joanna Wiszniewska; Reuben Matalon; Jill A Rosenfeld; Roger E Stevenson; Sung-Hae L Kang; Sau Wai Cheung; Arthur L Beaudet; Pawel Stankiewicz
Journal:  Mol Cytogenet       Date:  2012-04-05       Impact factor: 2.009

Review 7.  Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.

Authors:  C J Law; A M Fisher; I K Temple
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

8.  Dissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen.

Authors:  Debora Bogani; Catherine Willoughby; Jennifer Davies; Kulvinder Kaur; Ghazala Mirza; Anju Paudyal; Heather Haines; Richard McKeone; Matthew Cadman; Guido Pieles; Jürgen E Schneider; Shoumo Bhattacharya; Andrea Hardy; Patrick M Nolan; Nikos Tripodis; Michael J Depew; Ramya Chandrasekara; Gimara Duncan; Paul T Sharpe; Andy Greenfield; Paul Denny; Steve D M Brown; Jiannis Ragoussis; Ruth M Arkell
Journal:  Proc Natl Acad Sci U S A       Date:  2005-08-18       Impact factor: 11.205

9.  Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting.

Authors:  A F Davies; K Imaizumi; G Mirza; R S Stephens; Y Kuroki; M Matsuno; J Ragoussis
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

10.  AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice.

Authors:  T Nottoli; S Hagopian-Donaldson; J Zhang; A Perkins; T Williams
Journal:  Proc Natl Acad Sci U S A       Date:  1998-11-10       Impact factor: 11.205
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.