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Interstitial deletion of the short arm of chromosome 3
Authors:J M Hertz  W Coerdt  N Hahnemann  M Schwartz
Institution:(1) Institute of Human Genetics, University of Aarhus, The Bartholin Building, DK-8000 Aarhus, Denmark;(2) Abteilung für Genetische Pathologie, Institut für Humangenetik der Universität, Ratzeburger Allee 160, D-2400 Lübeck, Federal Republic of Germany;(3) Department of Gynecology, Aalborg Sygehus Nord, DK-9000 Aalborg, Denmark;(4) Section of Clinical Genetics, University Hospital, DK-2100 Copenhagen, Denmark
Abstract:Summary A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pterrarrp14.2::p11rarrqter). The fetus had craniofacial dysmorphisms, a single transverse palmar crease, ulnar deviation in the wrists, cardiovascular anomalies, a slight ureteric dilatation and a mobile caecum. Our observations are compared with five other cases with interstitial deletion of the short arm of chromosome 3 to delineate further the proximal 3p deletion syndrome. The gene for beta-galactosidase-1 (GLB-1) has previously been assigned to chromosome 3(p21rarrq21). The absence of a gene dosis effect for GLB-1 in this study indicates exclusion of GLB-1 from 3(p11rarrp14.2).
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