De novo interstitial deletion del(1)(p21p32).
Open Access
- 1 August 1979
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 16 (4), 323-327
- https://doi.org/10.1136/jmg.16.4.323
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 to p22::p32 to pter).Keywords
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