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• W2018618423 abstract "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, rectangular 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." @default.
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• W2018618423 date "1996-12-30" @default.
• W2018618423 modified "2023-09-27" @default.
• W2018618423 title "Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2" @default.
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• W2018618423 doi "https://doi.org/10.1002/(sici)1096-8628(19961230)66:4<373::aid-ajmg1>3.0.co;2-m" @default.
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