Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2

Journal Article · Mon Dec 30 04:00:00 EST 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19961230)66:4<373::AID-AJMG1>3.0.CO;2-M· OSTI ID:478532

Saal, H M ^[1]; Johnson, R C; Carr, A G; Samango-Sprouse, C ^[2]

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1. Children`s Hospital Medical Center, Cincinnati, OH (United States)
2. George Washington Univ. School of Medicine, Washington, DC (United States); and others

To our knowledge, only four previous cases of distal chromosome 2p deletions exist in the literature. We present a patient with minor facial anomalies who had a distal interstitial deletion of the short arm of chromosome 2, del(2)(p24.2p25.1). This patient had many features seen in other patients with distal 2p deletion including short stature, {open_quotes}rectangular{close_quotes} facies, microcephaly, hypotonia, and mental retardation. This patient also has sensorineural hearing loss which has been described in one other patient with a similar deletion. The N-myc oncogene has been mapped to 2p24. By fluorescence in situ hybridization using a cDNA probe for the N-myc oncogene, this patient was found to have a deletion of the N-myc oncogene. This confirms the previous map location for N-myc. 17 refs., 3 figs., 1 tab.

• OSTI ID: 478532
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 66; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BANDING TECHNIQUES
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
FLUORESCENCE
GENE MUTATIONS
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 2
IN-SITU HYBRIDIZATION
MENTAL DISORDERS
ONCOGENES
PATIENTS
PHENOTYPE
PROBES
SENSE ORGANS DISEASES