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

Journal Article · Wed Apr 24 04:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320620404· OSTI ID:391077

Digilio, M C; Marino, B; Giannotti, A ^[1]; Dallapiccola, B ^[2]

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1. Bambino Gesu Hospital, Rome (Italy)
2. Univ. of Tor Vergata, Rome (Italy)

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.

• Sponsoring Organization: USDOE
• OSTI ID: 391077
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 62; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CARDIOVASCULAR DISEASES
CHROMOSOMAL ABERRATIONS
CONGENITAL DISEASES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 22
HUMAN CHROMOSOME 5
PATIENTS
PHENOTYPE
PROBES