PMID: 1196733Nov 1, 1975Paper

Trisomy 8 mosaicism syndrome

Pediatrics
R M FinemanW R Breg

Abstract

Chromosome 8 is the largest autosome thus far found to be trisomic among liveborn infants. Trisomy 8 "mosaicism" syndrome (T8mS) consists primarily of individuals whose chromosome complement is mosaic for chromosome 8 (T8m), i.e., patients with a chromosomally normal cell line in addition to the trisomic 8 cell line, and a few known individuals with full trisomy 8 (T8), i.e., each cell observed contains an extra chromosome 8. Reported cases of both types share a number of common features and thus have helped to delineate a new syndrome. Common features of T8mS include mild-to-moderate mental retardation, strabismus, osseous and soft tissue abnormalities, lowset and/or malformed ears, broad bulbous nose, palate deformity, various types of congenital cardiovascular disorders, hydronephrosis, cryptorchidism, and characteristic dermatoglyphics. Since chromosomal mosaicism is often present in this syndrome it is not surprising that considerable phenotypic variation exists. The present report of one of the youngest individuals yet described with T8m adds two more physical findings (dense corneal clouding and a heretofore undescribed clavicular deformity) to the constellation of abnormalities associated with T8mS. On the basis of the ...Continue Reading

References

Sep 20, 1975·Humangenetik·A Pérez-CastilloV Aller
Mar 1, 1972·Journal of Medical Genetics·T CasperssonW H Price
Feb 1, 1974·The Journal of Pediatrics·L AtkinsV M Riccardi
Oct 1, 1974·American Journal of Diseases of Children·P A WalravensR L Wesenberg
Jan 1, 1974·Humangenetik·B Schaumann
Dec 1, 1974·Journal of Medical Genetics·B F CrandallC H Fish
Sep 20, 1973·Humangenetik·S KakatiA K Sinha
Jun 26, 1974·Humangenetik·E TuncbilekB Say
Mar 1, 1963·Acta Paediatrica·E M BUHLERG STALDER

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