Literature DB >> 8230157

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

J Burn1, A Takao, D Wilson, I Cross, K Momma, R Wadey, P Scambler, J Goodship.   

Abstract

The conotruncal anomaly face syndrome was described in a Japanese publication in 1976 and comprises dysmorphic facial appearance and outflow tract defects of the heart. The authors subsequently noted similarities to Shprintzen syndrome and DiGeorge syndrome. Chromosome analysis in five cases did not show a deletion at high resolution, but fluorescent in situ hybridisation using probe DO832 showed a deletion within chromosome 22q11 in all cases.

Entities:  

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Year:  1993        PMID： 8230157      PMCID： PMC1016562          DOI： 10.1136/jmg.30.10.822

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


  8 in total

1.  A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Authors:  D I Wilson; I E Cross; J A Goodship; J Brown; P J Scambler; H H Bain; J F Taylor; K Walsh; A Bankier; J Burn
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

2.  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

3.  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

4.  DiGeorge syndrome: part of CATCH 22.

Authors:  D I Wilson; J Burn; P Scambler; J Goodship
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

Review 5.  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

6.  A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.

Authors:  R J Shprintzen; R B Goldberg; M L Lewin; E J Sidoti; M D Berkman; R V Argamaso; D Young
Journal:  Cleft Palate J       Date:  1978-01

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.  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
  8 in total
  57 in total

1.  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

2.  Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome.

Authors:  Alexei M C Machado; Tony J Simon; Vy Nguyen; Donna M McDonald-McGinn; Elaine H Zackai; James C Gee
Journal:  Brain Res       Date:  2006-12-13       Impact factor: 3.252

3.  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

4.  Domain specific attentional impairments in children with chromosome 22q11.2 deletion syndrome.

Authors:  Joel P Bish; Renee Chiodo; Victoria Mattei; Tony J Simon
Journal:  Brain Cogn       Date:  2007-05-11       Impact factor: 2.310

Review 5.  A new account of the neurocognitive foundations of impairments in space, time and number processing in children with chromosome 22q11.2 deletion syndrome.

Authors:  Tony J Simon
Journal:  Dev Disabil Res Rev       Date:  2008

6.  Practical guidelines for managing patients with 22q11.2 deletion syndrome.

Authors:  Anne S Bassett; Donna M McDonald-McGinn; Koen Devriendt; Maria Cristina Digilio; Paula Goldenberg; Alex Habel; Bruno Marino; Solveig Oskarsdottir; Nicole Philip; Kathleen Sullivan; Ann Swillen; Jacob Vorstman
Journal:  J Pediatr       Date:  2011-05-12       Impact factor: 4.406

Review 7.  Velocardiofacial syndrome.

Authors:  A C Pike; M Super
Journal:  Postgrad Med J       Date:  1997-12       Impact factor: 2.401

8.  Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

Authors:  M A Sabry; M Zaki; S J Abul Hassan; D G Ramadan; M A Abdel Rasool; S A al Awadi; Q al Saleh
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

9.  Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.

Authors:  H Kurahashi; T Nakayama; Y Osugi; E Tsuda; M Masuno; K Imaizumi; T Kamiya; T Sano; S Okada; I Nishisho
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

10.  The 22q11.2 deletion in African-American patients: an underdiagnosed population?

Authors:  Donna M McDonald-McGinn; Nancy Minugh-Purvis; Richard E Kirschner; Abbas Jawad; Melissa K Tonnesen; Jason R Catanzaro; Elizabeth Goldmuntz; Deborah Driscoll; Don Larossa; Beverly S Emanuel; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2005-04-30       Impact factor: 2.802
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