De novo interstitial deletion del(1)(p21p32).

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).

journal_name

J Med Genet

authors

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

doi

10.1136/jmg.16.4.323

subject

Has Abstract

pub_date

1979-08-01 00:00:00

pages

323-7

issue

4

eissn

0022-2593

issn

1468-6244

journal_volume

16

pub_type

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