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Literature DB >> 8499906

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

S Halford¹, E Lindsay, M Nayudu, A H Carey, A Baldini, P J Scambler.

Abstract

DiGeorge syndrome and velo-cardio-facial syndrome are associated with deletions within 22q11. In attempting to refine the shortest region of overlap for these syndromes we have employed fluorescence in situ hybridisation. The results obtained for some probes indicate the presence of low-copy-number repeat families dispersed through proximal 22q. Several primate species have been examined for the presence or absence of two sequences mapping to pter-22q11. The results suggest a relatively recent evolutionary origin for these sequences and the loss of one sequence during the course of primate evolution.

Entities: Disease

Mesh：

Substances：
Genetic Markers

Year: 1993 PMID： 8499906 DOI： 10.1093/hmg/2.2.191

Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150

Keyword Cloud
Cited

27 in total

1. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.

Authors: T H Shaikh; M L Budarf; L Celle; E H Zackai; B S Emanuel
Journal: Am J Hum Genet Date: 1999-12 Impact factor: 11.025

2. Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.

Authors: H F Sutherland; R Wadey; J M McKie; C Taylor; U Atif; K A Johnstone; S Halford; U J Kim; J Goodship; A Baldini; P J Scambler
Journal: Am J Hum Genet Date: 1996-07 Impact factor: 11.025

3. Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization.

Authors: A Puech; B Saint-Jore; B Funke; D J Gilbert; H Sirotkin; N G Copeland; N A Jenkins; R Kucherlapati; B Morrow; A I Skoultchi
Journal: Proc Natl Acad Sci U S A Date: 1997-12-23 Impact factor: 11.205

4. Radial aplasia and chromosome 22q11 deletion.

Authors: M C Digilio; A Giannotti; B Marino; A M Guadagni; M Orzalesi; B Dallapiccola
Journal: J Med Genet Date: 1997-11 Impact factor: 6.318

5. Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.

Authors: L Edelmann; P Stankiewicz; E Spiteri; R K Pandita; L Shaffer; J R Lupski; B E Morrow; J Lupski
Journal: Genome Res Date: 2001-02 Impact factor: 9.043

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

1. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.

2. Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.

3. Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization.

4. Radial aplasia and chromosome 22q11 deletion.

5. Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.

6. Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders.

Review 7. 22q11 deletion syndrome: a genetic subtype of schizophrenia.

8. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.

Review 9. 22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.

10. Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).