De novo interstitial deletion del(1)(p21p32)

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Abstract

A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1) (qter→p22::p32→pter).

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APA

Bene, M., Duca-Marinescu, D., Ioan, D., & Maximilian, C. (1979). De novo interstitial deletion del(1)(p21p32). Journal of Medical Genetics, 16(4), 323–327. https://doi.org/10.1136/jmg.16.4.323

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