Literature DB >> 8544199

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

J Goodship1, I Cross, P Scambler, J Burn.   

Abstract

We report monozygotic twins concordant for 22q11.2 deletion but discordant for clinical phenotype. Both boys show the typical dysmorphic features with short palpebral fissures, square nasal tip, small mouth, and both have nasal speech, but only one twin had a heart defect. They show that the phenotypic variability seen in this microdeletion syndrome cannot be explained on the basis of genotypic differences alone.

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Year:  1995        PMID： 8544199      PMCID： PMC1051680          DOI： 10.1136/jmg.32.9.746

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


  15 in total

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

Authors:  S Halford; E Lindsay; M Nayudu; A H Carey; A Baldini; P J Scambler
Journal:  Hum Mol Genet       Date:  1993-02       Impact factor: 6.150

3.  Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Authors:  D A Driscoll; J Salvin; B Sellinger; M L Budarf; D M McDonald-McGinn; E H Zackai; B S Emanuel
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

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

5.  Congenital heart defects and twinning.

Authors:  J Burn; G Corney
Journal:  Acta Genet Med Gemellol (Roma)       Date:  1984

6.  Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

Authors:  R Matsuoka; A Takao; M Kimura; S Imamura; C Kondo; K Joh-o; K Ikeda; M Nishibatake; M Ando; K Momma
Journal:  Am J Med Genet       Date:  1994-11-15

7.  "CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?

Authors:  A Lipson; B Emanuel; P Colley; K Fagan; D A Driscoll
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

8.  Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.

Authors:  S Halford; R Wadey; C Roberts; S C Daw; J A Whiting; H O'Donnell; I Dunham; D Bentley; E Lindsay; A Baldini
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

9.  Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Authors:  E Goldmuntz; D Driscoll; M L Budarf; E H Zackai; D M McDonald-McGinn; J A Biegel; B S Emanuel
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

10.  Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions.

Authors:  G Scirè; B Dallapiccola; P Iannetti; F Bonaiuto; C Galasso; R Mingarelli; B Boscherini
Journal:  Am J Med Genet       Date:  1994-10-01
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3.  Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

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Review 4.  Velocardiofacial syndrome.

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

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

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Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

6.  Chromosome 22q11 deletion presenting as the Potter sequence.

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Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

7.  Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome.

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Review 8.  22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.

Authors:  Peter J Scambler
Journal:  Pediatr Cardiol       Date:  2010-04       Impact factor: 1.655

Review 9.  Common mechanisms in development and disease: BMP signaling in craniofacial development.

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Journal:  Cytokine Growth Factor Rev       Date:  2015-11-24       Impact factor: 7.638

Review 10.  A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

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Journal:  BMC Med Genet       Date:  2009-06-02       Impact factor: 2.103
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