Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2).
A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pter----p14.2::p11----qter). 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(p21----q21). The absence of a gene dosis effect for GLB-1 in this study indicates exclusion of GLB-1 from 3(p11----p14.2).
D000015:Abnormalities, Multiple / Q000235:genetics; D000032:Abortion, Therapeutic; D000649:Amniocentesis; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D005696:Galactosidases / Q000235:genetics*; D006801:Humans; D008297:Male; D001616:beta-Galactosidase / Q000235:genetics*
D005696:Galactosidases; D001616:beta-Galactosidase