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Case Reports
. 1979 Aug;16(4):323-7.
doi: 10.1136/jmg.16.4.323.

De novo interstitial deletion del(1)(p21p32)

M Bene, A Duca-Marinescu, D Ioan, C Maximilian
Case Reports

De novo interstitial deletion del(1)(p21p32)

M Bene et al. J Med Genet. 1979 Aug.

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).

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References

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