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Interstitial deletion of the short arm of chromosome 3

✍ Scribed by J. M. Hertz; W. Coerdt; N. Hahnemann; M. Schwartz

Publisher
Springer
Year
1988
Tongue
English
Weight
248 KB
Volume
79
Category
Article
ISSN
0340-6717

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✦ Synopsis

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).

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