Literature DB >> 8230162

DiGeorge syndrome: part of CATCH 22.

D I Wilson1, J Burn, P Scambler, J Goodship.   

Abstract

DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11. We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as the severe end of the clinical spectrum embraced by the acronym CATCH 22 syndrome; Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions.

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Year:  1993        PMID： 8230162      PMCID： PMC1016569          DOI： 10.1136/jmg.30.10.852

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  13 in total

1.  A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

Authors:  D A Driscoll; M L Budarf; B S Emanuel
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

2.  The velo-cardio-facial syndrome: a clinical and genetic analysis.

Authors:  R J Shprintzen; R B Goldberg; D Young; L Wolford
Journal:  Pediatrics       Date:  1981-02       Impact factor: 7.124

3.  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

4.  A deletion in chromosome 22 can cause DiGeorge syndrome.

Authors:  A de la Chapelle; R Herva; M Koivisto; P Aula
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  Deletions within chromosome 22q11 in familial congenital heart disease.

Authors:  D I Wilson; J A Goodship; J Burn; I E Cross; P J Scambler
Journal:  Lancet       Date:  1992-09-05       Impact factor: 79.321

Review 6.  Systemic treatment of early breast cancer by hormonal, cytotoxic, or immune therapy. 133 randomised trials involving 31,000 recurrences and 24,000 deaths among 75,000 women. Early Breast Cancer Trialists' Collaborative Group.

Authors: 
Journal:  Lancet       Date:  1992-01-04       Impact factor: 79.321

7.  Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

Authors:  D A Driscoll; N B Spinner; M L Budarf; D M McDonald-McGinn; E H Zackai; R B Goldberg; R J Shprintzen; H M Saal; J Zonana; M C Jones
Journal:  Am J Med Genet       Date:  1992-09-15

8.  Truncus arteriosus and facial dysmorphism.

Authors:  D J Radford
Journal:  Aust Paediatr J       Date:  1985-05

9.  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

10.  DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.

Authors:  D I Wilson; I E Cross; J A Goodship; S Coulthard; A H Carey; P J Scambler; H H Bain; A S Hunter; P E Carter; J Burn
Journal:  Br Heart J       Date:  1991-10
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  89 in total

1.  Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22).

Authors:  D A Morrison; D R FitzPatrick; B W Fleck
Journal:  Br J Ophthalmol       Date:  2002-11       Impact factor: 4.638

2.  Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22.

Authors:  K S Reddy; V Sulcova; B Siassi
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

3.  Chromosome 22q11 deletions in patients with conotruncal heart defects.

Authors:  A Khositseth; C Tocharoentanaphol; P Khowsathit; N Ruangdaraganon
Journal:  Pediatr Cardiol       Date:  2005 Sep-Oct       Impact factor: 1.655

4.  Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

Authors:  Christiane Zweier; Heinrich Sticht; Inci Aydin-Yaylagül; Christine E Campbell; Anita Rauch
Journal:  Am J Hum Genet       Date:  2007-01-18       Impact factor: 11.025

5.  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

6.  Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients.

Authors:  Mudaffer Al-Mudaffer; Prem Puri; William Reardon
Journal:  Pediatr Surg Int       Date:  2006-02-17       Impact factor: 1.827

7.  Immunologic reconstitution in 22q deletion (DiGeorge) syndrome.

Authors:  Sean A McGhee; Maria Garcia Lloret; E Richard Stiehm
Journal:  Immunol Res       Date:  2009       Impact factor: 2.829

8.  Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.

Authors:  Karina M Sørensen; Peter Agergaard; Charlotte Olesen; Paal S Andersen; Lars A Larsen; John R Ostergaard; Jan P Schouten; Michael Christiansen
Journal:  J Mol Diagn       Date:  2010-01-14       Impact factor: 5.568

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

Authors:  J O Van Hemel; C Schaap; D Van Opstal; M P Mulder; M F Niermeijer; J H Meijers
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

10.  Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome.

Authors:  M Teresa de la Morena; Jennifer L Eitson; Igor M Dozmorov; Serkan Belkaya; Ashley R Hoover; Esperanza Anguiano; M Virginia Pascual; Nicolai S C van Oers
Journal:  Clin Immunol       Date:  2013-01-30       Impact factor: 3.969
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