Literature DB >> 7211949

Duplication 11p11.3 leads to 14.1 to meiotic crossing--over.

R J Strobel, V M Riccardi, D H Ledbetter, H M Hittner.   

Abstract

An infant with macular dysfunction, cleft lip and palate, and developmental delay was shown to have an inverted duplication of 11p11.3 leads to p14.1 on the basis of meiotic recombination subsequent to an intrachromosomal "shift" in his mother. A half-sister had previously been shown [3] to have the reciprocal recombinant with resultant deletion of 11p11.3 leads to 11p14.1.

Entities:  

Mesh:

Year:  1980        PMID: 7211949     DOI: 10.1002/ajmg.1320070105

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


  6 in total

Review 1.  Intrachromosomal insertions: a case report and a review.

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

Review 2.  Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

Authors:  A Slavotinek; L Gaunt; D Donnai
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

3.  Evidence for WT1 as a Wilms tumor (WT) gene: intragenic germinal deletion in bilateral WT.

Authors:  V Huff; H Miwa; D A Haber; K M Call; D Housman; L C Strong; G F Saunders
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

4.  Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

Authors:  Lampros A Mavrogiannis; Indira B Taylor; Sally J Davies; Feliciano J Ramos; José L Olivares; Andrew O M Wilkie
Journal:  Eur J Hum Genet       Date:  2006-02       Impact factor: 4.246

5.  A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.

Authors:  O Palumbo; T Mattina; P Palumbo; M Carella; C S Perrotta
Journal:  Mol Syndromol       Date:  2013-11-28

6.  Parental origin of de novo constitutional deletions of chromosomal band 11p13.

Authors:  V Huff; A Meadows; V M Riccardi; L C Strong; G F Saunders
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.