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Literature DB >> 8444474

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.

C Desmaze¹, P Scambler, M Prieur, S Halford, D Sidi, F Le Deist, A Aurias.

Abstract

In a series of ten patients affected by DiGeorge syndrome, we screened, by high resolution banding and fluorescent in situ hybridization of a cosmid probe, for microdeletions associated with this syndrome. In the ten patients, a microdeletion was demonstrated by in situ hybridization, but suspected only in two patients by high resolution banding.

Entities: Disease Species

Mesh：

Year: 1993 PMID： 8444474 DOI： 10.1007/bf00202489

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

7 in total

1. Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.

Authors: C Desmaze; J F Deleuze; A M Dutrillaux; G Thomas; M Hadchouel; A Aurias
Journal: J Med Genet Date: 1992-04 Impact factor: 6.318

Review 2. The DiGeorge anomaly as a developmental field defect.

Authors: E J Lammer; J M Opitz
Journal: Am J Med Genet Suppl Date: 1986

3. [Di George syndrome, exemplary rhomboencephalic neurocristopathy].

Authors: G Couly; A Lagrue; C Griscelli
Journal: Rev Stomatol Chir Maxillofac Date: 1983

Review 4. The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome.

Authors: W Müller; H H Peter; M Wilken; H Jüppner; H C Kallfelz; H P Krohn; K Miller; C H Rieger
Journal: Eur J Pediatr Date: 1988-06 Impact factor: 3.183

5. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

Authors: P J Scambler; A H Carey; R K Wyse; S Roach; J P Dumanski; M Nordenskjold; R Williamson
Journal: Genomics Date: 1991-05 Impact factor: 5.736

6. 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.

Authors: A H Carey; S Roach; R Williamson; J P Dumanski; M Nordenskjold; V P Collins; G Rouleau; N Blin; P Jalbert; P J Scambler
Journal: Genomics Date: 1990-07 Impact factor: 5.736

7. Molecular studies of DiGeorge syndrome.

Authors: W J Fibison; M Budarf; H McDermid; F Greenberg; B S Emanuel
Journal: Am J Hum Genet Date: 1990-05 Impact factor: 11.025

7 in total

20 in total

1. Patients' age at time of testing for chromosome 22q11 microdeletions: missed opportunities for genetic counseling.

Authors: Y Liu; S Fallet; R Koppel
Journal: Pediatr Cardiol Date: 2000 Mar-Apr Impact factor: 1.655

2. Cloning and characterization of hOGG1, a human homolog of the OGG1 gene of Saccharomyces cerevisiae.

Authors: J P Radicella; C Dherin; C Desmaze; M S Fox; S Boiteux
Journal: Proc Natl Acad Sci U S A Date: 1997-07-22 Impact factor: 11.205

3. Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.

Authors: E B Rand; N B Spinner; D A Piccoli; P F Whitington; R Taub
Journal: Am J Hum Genet Date: 1995-11 Impact factor: 11.025

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.

1. Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.

Review 2. The DiGeorge anomaly as a developmental field defect.

3. [Di George syndrome, exemplary rhomboencephalic neurocristopathy].

Review 4. The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome.

5. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

6. 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.

7. Molecular studies of DiGeorge syndrome.

1. Patients' age at time of testing for chromosome 22q11 microdeletions: missed opportunities for genetic counseling.

2. Cloning and characterization of hOGG1, a human homolog of the OGG1 gene of Saccharomyces cerevisiae.

3. Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.

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

5. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

6. Precise localization on chromosome 12 of the ATF-1 gene by fluorescence in situ hybridization.

7. Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.

8. Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.

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

10. Clinical and molecular study of DiGeorge sequence.