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Literature DB >> 10569971

Towards earlier diagnosis of 22q11 deletions.

E S Tobias¹, N Morrison, M L Whiteford, J L Tolmie.

Abstract

Over a 7 year period, 551 patients were investigated for the presence of a chromosome 22q11 deletion by fluorescence in situ hybridisation. Analysis of the presenting features of the 67 individuals with this chromosome deletion permitted us to devise guidelines to facilitate early diagnosis.

Entities: Species

Mesh：

Year: 1999 PMID： 10569971 PMCID： PMC1718153 DOI： 10.1136/adc.81.6.513

Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791

5 in total

1. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.

Authors: C Carlson; H Sirotkin; R Pandita; R Goldberg; J McKie; R Wadey; S R Patanjali; S M Weissman; K Anyane-Yeboa; D Warburton; P Scambler; R Shprintzen; R Kucherlapati; B E Morrow
Journal: Am J Hum Genet Date: 1997-09 Impact factor: 11.025

Review 2. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature.

Authors: J Leana-Cox; S Pangkanon; K R Eanet; M S Curtin; E A Wulfsberg
Journal: Am J Med Genet Date: 1996-11-11

3. Chromosome 22q11 microdeletions in tetralogy of Fallot.

Authors: A H Trainer; N Morrison; A Dunlop; N Wilson; J Tolmie
Journal: Arch Dis Child Date: 1996-01 Impact factor: 3.791

4. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.

Authors: A H Carey; D Kelly; S Halford; R Wadey; D Wilson; J Goodship; J Burn; T Paul; A Sharkey; J Dumanski
Journal: Am J Hum Genet Date: 1992-11 Impact factor: 11.025

5. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Authors: A K Ryan; J A Goodship; D I Wilson; N Philip; A Levy; H Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; M Prieur; A Aurias; F L Raymond; J Clayton-Smith; E Hatchwell; C McKeown; F A Beemer; B Dallapiccola; G Novelli; J A Hurst; J Ignatius; A J Green; R M Winter; L Brueton; K Brøndum-Nielsen; P J Scambler
Journal: J Med Genet Date: 1997-10 Impact factor: 6.318

5 in total

16 in total

1. Patterns of dysmorphic features in schizophrenia.

Authors: L E Scutt; E W Chow; R Weksberg; W G Honer; A S Bassett
Journal: Am J Med Genet Date: 2001-12-08

2. 22q11.2 microdeletion in two adolescent patients who presented with convulsion.

Authors: Murat Özkale; İlknur Erol
Journal: Turk Pediatri Ars Date: 2014-03-01

3. Screening for 22q11 deletion syndrome among patients with congenital heart defects.

Authors: Rafael Fabiano Machado Rosa; Rosana Cardoso Manique Rosa; Patrícia Trevisan; Carla Graziadio; Marileila Varella-Garcia; Giorgio Adriano Paskulin; Paulo Ricardo Gazzola Zen
Journal: Sao Paulo Med J Date: 2014 Impact factor: 1.044

Review 4. DiGeorge syndrome/chromosome 22q11.2 deletion syndrome.

Authors: K E Sullivan
Journal: Curr Allergy Asthma Rep Date: 2001-09 Impact factor: 4.806

5. Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing.

Authors: Kitiwan Rojnueangit; Thanitchet Khetkham; Preyaporn Onsod; Takol Chareonsirisuthigul
Journal: J Pediatr Genet Date: 2020-10-01

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

Authors: Ashutosh Halder; Manish Jain; Isha Chaudhary; Madhulika Kabra
Journal: BMC Med Genet Date: 2010-06-23 Impact factor: 2.103

7. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

Authors: Fabíola P Monteiro; Társis P Vieira; Ilária C Sgardioli; Miriam C Molck; Ana Paula Damiano; Josiane Souza; Isabella L Monlleó; Marshall I B Fontes; Agnes C Fett-Conte; Têmis M Félix; Gabriela F Leal; Erlane M Ribeiro; Claudio E M Banzato; Clarissa de R Dantas; Iscia Lopes-Cendes; Vera Lúcia Gil-da-Silva-Lopes
Journal: Eur J Pediatr Date: 2013-02-26 Impact factor: 3.183