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Title: Exclusion of 22q11 deletion in Noonan syndrome with Tetralogy of Fallot

Abstract

We read with interest the report of Robin et al. [1995] published in recent issue of the Journal. The authors described 6 patients with Noonan syndrome (NS) who underwent molecular evaluation for submicroscopic deletion of chromosome band 22q11. None of those patients presented with conotruncal heart defects. Evidence for 22q11 hemizygosity was demonstrated in only one patient. This patient had NS-like manifestations without clinical manifestations of DiGeorge (DG) or velo-cardio-facial (VCF) syndromes. The molecular results obtained in the other 5 patients led the authors to conclude that classical NS is not due to del(22)(q11), even if some patients with del(22)(q11) may present NS-like manifestations. 12 refs., 1 tab.

Authors:
; ;  [1];  [2]
  1. Bambino Gesu Hospital, Rome (Italy)
  2. Univ. of Tor Vergata, Rome (Italy)
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
391077
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 62; Journal Issue: 4; Other Information: PBD: 24 Apr 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 22; CHROMOSOMAL ABERRATIONS; GENETIC MAPPING; PATIENTS; PHENOTYPE; HEREDITARY DISEASES; CONGENITAL DISEASES; CARDIOVASCULAR DISEASES; HUMAN CHROMOSOME 5; PROBES

Citation Formats

Digilio, M C, Marino, B, Giannotti, A, Dallapiccola, B, and Casa Sollievo Sofferenza Hospital, San Giovanni Rotondo. Exclusion of 22q11 deletion in Noonan syndrome with Tetralogy of Fallot. United States: N. p., 1996. Web. doi:10.1002/ajmg.1320620404.
Digilio, M C, Marino, B, Giannotti, A, Dallapiccola, B, & Casa Sollievo Sofferenza Hospital, San Giovanni Rotondo. Exclusion of 22q11 deletion in Noonan syndrome with Tetralogy of Fallot. United States. https://doi.org/10.1002/ajmg.1320620404
Digilio, M C, Marino, B, Giannotti, A, Dallapiccola, B, and Casa Sollievo Sofferenza Hospital, San Giovanni Rotondo. 1996. "Exclusion of 22q11 deletion in Noonan syndrome with Tetralogy of Fallot". United States. https://doi.org/10.1002/ajmg.1320620404.
@article{osti_391077,
title = {Exclusion of 22q11 deletion in Noonan syndrome with Tetralogy of Fallot},
author = {Digilio, M C and Marino, B and Giannotti, A and Dallapiccola, B and Casa Sollievo Sofferenza Hospital, San Giovanni Rotondo},
abstractNote = {We read with interest the report of Robin et al. [1995] published in recent issue of the Journal. The authors described 6 patients with Noonan syndrome (NS) who underwent molecular evaluation for submicroscopic deletion of chromosome band 22q11. None of those patients presented with conotruncal heart defects. Evidence for 22q11 hemizygosity was demonstrated in only one patient. This patient had NS-like manifestations without clinical manifestations of DiGeorge (DG) or velo-cardio-facial (VCF) syndromes. The molecular results obtained in the other 5 patients led the authors to conclude that classical NS is not due to del(22)(q11), even if some patients with del(22)(q11) may present NS-like manifestations. 12 refs., 1 tab.},
doi = {10.1002/ajmg.1320620404},
url = {https://www.osti.gov/biblio/391077}, journal = {American Journal of Medical Genetics},
number = 4,
volume = 62,
place = {United States},
year = {Wed Apr 24 00:00:00 EDT 1996},
month = {Wed Apr 24 00:00:00 EDT 1996}
}