Literature DB >> 2365351

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome.

A H Carey1, S Roach, R Williamson, J P Dumanski, M Nordenskjold, V P Collins, G Rouleau, N Blin, P Jalbert, P J Scambler.   

Abstract

DiGeorge syndrome is a human developmental field defect with the pathological features of an abnormality of embryogenesis at 4 to 6 weeks of gestation. Cytogenetic analyses of patients have revealed a number of instances of monosomy 22q11-pter in this condition. We have analyzed 52 DNA markers that map to 22q11-pter and have found 27 that are deleted in DiGeorge syndrome patients with known monosomy for part of this region and that are duplicated in patients with the der22 syndrome. The set of clones mapping to the DiGeorge region was further assigned to a proximal or a distal location within the deletion.

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Year:  1990        PMID： 2365351     DOI： 10.1016/0888-7543(90)90161-m

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  19 in total

1.  Characterization and mapping of the 5' portion of von Willebrand factor pseudogene.

Authors:  P Patracchini; G Marchetti; V Aiello; G Croci; E Calzolari; F Bernardi
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

2.  Identification of twelve new RFLP-markers on chromosome 22q11-qter.

Authors:  E Carlbom; N Sugawa; C Larsson; P J Scambler; J P Dumanski; V P Collins; M Nordenskjöld
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

3.  Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome.

Authors:  A M Sharkey; L McLaren; M Carroll; J Fantes; D Green; D Wilson; P J Scambler; H J Evans
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

4.  Distribution and linkage of repetitive clusters from the heterochromatic region of human chromosome 22.

Authors:  R Müllenbach; C Pusch; K Holzmann; R Suijkerbuijk; N Blin
Journal:  Chromosome Res       Date:  1996-06       Impact factor: 5.239

5.  Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.

Authors:  C Desmaze; P Scambler; M Prieur; S Halford; D Sidi; F Le Deist; A Aurias
Journal:  Hum Genet       Date:  1993-02       Impact factor: 4.132

Review 6.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

7.  Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.

Authors:  C Desmaze; M Prieur; F Amblard; M Aikem; F LeDeist; S Demczuk; J Zucman; B Plougastel; O Delattre; M F Croquette
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

8.  Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.

Authors:  B Funke; L Edelmann; N McCain; R K Pandita; J Ferreira; S Merscher; M Zohouri; L Cannizzaro; A Shanske; B E Morrow
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

9.  Noonan's and DiGeorge syndromes with monosomy 22q11.

Authors:  D I Wilson; S B Britton; C McKeown; D Kelly; I E Cross; S Strobel; P J Scambler
Journal:  Arch Dis Child       Date:  1993-02       Impact factor: 3.791

10.  Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.

Authors:  B Morrow; R Goldberg; C Carlson; R Das Gupta; H Sirotkin; J Collins; I Dunham; H O'Donnell; P Scambler; R Shprintzen
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025
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