Deficiency of distal 8p —: report of two cases and review of the literature
- 23 April 1990
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 37 (4) , 271-278
- https://doi.org/10.1111/j.1399-0004.1990.tb04189.x
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.Keywords
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