PMID: 2190718Apr 1, 1990Paper

Deficiency of distal 8p--report of two cases and review of the literature

Clinical Genetics
V PecileG Filippi

Abstract

A terminal deletion in the short arm of chromosome 8 was found in a 2.5-year-old boy: 46,XY,del(8) (p22.0) and in a 1-year-old girl: 46,XX,del(8) (p23.1) with dysmorphic craniofacial features and developmental retardation. Erythrocyte GSR activities of the boy and of his parents were within normal limits. Vitamin K dependent coagulation factors in the girl and her parents gave normal results. Clinical findings were compared with previously reported cases and suggested a recognizable syndrome.

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Citations

Sep 1, 1993·American Journal of Medical Genetics·M C DigilioB Dallapiccola
Jan 10, 1997·American Journal of Medical Genetics·M Siniscalco
Apr 17, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Barbara R Pober
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Jun 7, 2005·American Journal of Medical Genetics. Part a·Osamu ShimokawaNaomichi Matsumoto
Jan 29, 2019·Molecular Genetics & Genomic Medicine·Kathy Wagner-MahlerYves Morel
Jul 17, 2009·American Journal of Medical Genetics. Part a·Margaret J WatSung-Hae Lee Kang
Jul 3, 2021·International Journal of Molecular Sciences·Giulia CannataSusanna Esposito
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Dec 16, 2021·European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Für Kinderchirurgie·Charlotte BendixenWendy Kay Chung

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