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Article

Deletion of 22q11 in two brothers with different phenotype.

American journal of medical genetics - 23 Jan 1998

Kasprzak L, Der Kaloustian V M, Elliott A M, Shevell M, Lejtenyi C, Eydoux P

Abstract excerpt

We have studied two brothers with submicroscopic 22q11 deletion. One brother had findings suggestive of DiGeorge syndrome, while the other had milder anomalies, including polydactyly. Fluorescence in situ hybridization (FISH) showed a minor cell line with deletion 22q11 in the mother. To our knowledge, this is the first report of a deletion of 22q11 in two sibs with different phenotypes and apparent maternal...

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PMID: 9475599

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