A fetus with an abnormal chromosome 7 and possible hydrolethalus syndrome

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Abstract

A fetus with multiple abnormalities phenotypically similar to hdrolethalus syndrome, but also with broad thumbs, was found to have a de novo interstitial deletion of the terminal segment of the long arm of chromosome 7 and small rearrangement within the proximal half of the p arm of the same chromosome. Terminal deletions of chromosome 7q fall into two broad phenotypic groups, neither of which resembles this fetus, but the digital anomalies are attributed to the 7q rearrangement disrupting the Greig syndrome gene.

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