Article
Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks.
Human genetics - 1 Oct 1990
MacDermot K D, Jack E, Cooke A, Turleau C, Lindenbaum R H, Pearson J, Patel C, Barnes P M, Portch J, Crawfurd M D
Abstract excerpt
We report three cases of ring chromosome 5 [r(5)], two familial (mother and daughter) and one sporadic. The phenotype resembled that of the "ring syndrome" with prenatal onset of short stature, growth retardation, mild facial dysmorphism and normal psychomotor development. Extended metaphase and prometaphase chromosome preparations using G-, R- and Q-banding and scanning electron microscopy (SEM) failed to...
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