PMID: 490590Aug 1, 1979Paper

De novo interstitial deletion del(1)(p21p32)

Journal of Medical Genetics
M BeneC Maximilian

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).

References

May 25, 1973·Humangenetik·H Van den BergheH Verresen
Aug 1, 1974·American Journal of Diseases of Children·J I Escobar, J J Yunis

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Citations

Apr 1, 1987·Journal of Medical Genetics·M B Petersen, M Warburg
Feb 1, 1991·Journal of Medical Genetics·M M LaiC Hart
Aug 1, 1991·Journal of Medical Genetics·M YoshinoK Abe
Aug 8, 1997·American Journal of Medical Genetics·D W StocktonJ R Lupski
Mar 26, 2003·American Journal of Medical Genetics. Part a·Clotilde MircherMaria Kirchoff
May 15, 2008·American Journal of Medical Genetics. Part a·Gustavo H B MaegawaIkuko Teshima
Nov 25, 1992·American Journal of Medical Genetics·F R MattiaP Walling
Dec 15, 2017·Clinical Dysmorphology·Schaida SchirwaniMeena Balasubramanian
Mar 1, 1991·Clinical Genetics·H Dockery, J Van der Westhuyzen
Feb 1, 1990·Clinical Genetics·P J Howard, M Porteus

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