Literature DB >> 2665488

Two infants with del(3)(p25pter) and a review of previously reported cases.

J C Ramer1, R L Ladda, C Frankel.   

Abstract

Del(3)(p25pter) is associated with a characteristic multiple congenital anomalies/mental retardation syndrome. Early recognition of these manifestations and identification of the chromosome defect are essential for proper management and counseling.

Entities:  

Mesh：

Year:  1989        PMID： 2665488     DOI： 10.1002/ajmg.1320330115

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


  4 in total

1.  Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.

Authors:  Susan W Robinson; Cynthia D Morris; Elizabeth Goldmuntz; Mark D Reller; Melanie A Jones; Robert D Steiner; Cheryl L Maslen
Journal:  Am J Hum Genet       Date:  2003-03-11       Impact factor: 11.025

2.  Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.

Authors:  T Drumheller; B C McGillivray; D Behrner; P MacLeod; D E McFadden; J Roberson; C Venditti; K Chorney; M Chorney; D I Smith
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

Review 3.  Intrachromosomal insertions: a case report and a review.

Authors:  K Madan; F H Menko
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

4.  3p-- syndrome defines a hearing loss locus in 3p25.3.

Authors:  Brendan J McCullough; Joe C Adams; Dustin J Shilling; M Patrick Feeney; Kathleen C Y Sie; Bruce L Tempel
Journal:  Hear Res       Date:  2007-01-08       Impact factor: 3.208
  4 in total

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