Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome (original) (raw)

• Article
• Published: 08 December 1999
• Emanuela Conti1,
• Antonio Novelli1,
• Mario Bengala1,
• Maria Cristina Digilio2,
• Bruno Marino2,
• Aldo Giannotti2,
• Orazio Gabrielli3,
• Giuseppe Novelli1 &
• …
• Bruno Dallapiccola1

European Journal of Human Genetics volume 7, pages 903–909 (1999)Cite this article

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Abstract

Deletions of chromosome 22q11.2 have been associated with distinct phenotypes including DiGeorge syndrome (DGS) and velo-cardio-facial (VCFS) syndrome. These diseases result from a failure to form derivatives of the third and fourth branchial arches during development. DGS/VCFS deletions usually encompass about 3 Mb of genomic DNA in more than 90% of patients. However, deletion mapping studies have failed to demonstrate the existence of a single small region of overlap (SRO) and ruled out any obvious correlation between site or size of deletion and severity of clinical phenotype. We describe three patients carrying ‘atypical’ deletions presenting the DGS/VCFS phenotype. A comparative analysis of deletions in our patients and those previously published has suggested the existence of five distinct critical regions within the 22q11.2 locus. This observation argues that DGS/VCFS results from haploinsufficiency secondary to a complex and as yet unexplained molecular mechanism, probably involving chromatin effects in mediating gene expression throughout the entire region.

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Authors and Affiliations

1. Dipartimento di Biopatologia e Diagnostica per Immagini, Università Tor Vergata and CSS-Mendel, Rome
   Francesca Amati, Emanuela Conti, Antonio Novelli, Mario Bengala, Giuseppe Novelli & Bruno Dallapiccola
2. Ospedale Pediatrico Bambino Gesù, Rome
   Maria Cristina Digilio, Bruno Marino & Aldo Giannotti
3. Clinica Pediatrica, Università di Ancona, Italy
   Orazio Gabrielli

Authors

1. Francesca Amati
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2. Emanuela Conti
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3. Antonio Novelli
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4. Mario Bengala
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5. Maria Cristina Digilio
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6. Bruno Marino
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7. Aldo Giannotti
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8. Orazio Gabrielli
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9. Giuseppe Novelli
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10. Bruno Dallapiccola
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Corresponding author

Correspondence toGiuseppe Novelli.

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Amati, F., Conti, E., Novelli, A. et al. Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.Eur J Hum Genet 7, 903–909 (1999). https://doi.org/10.1038/sj.ejhg.5200399

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• Received: 17 May 1999
• Revised: 22 July 1999
• Accepted: 05 August 1999
• Published: 08 December 1999
• Issue Date: 01 December 1999
• DOI: https://doi.org/10.1038/sj.ejhg.5200399

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