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Article

A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome

17 Mar 2004

Abstract excerpt

Fluorescence in situ hybridization (FISH) analysis can reveal undetected chromosomal rearrangements. We report a patient with cleft palate, hydronephrosis, and minor dysmorphic features, including low-set posteriorly rotated ears, down-slanting palpebral fissures, mandibular micrognathia, and brachymesophalangia. Routine chromosome analysis identified no abnormality of chromosome 22; FISH analysis with the TUPLE1...

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Identifiers

PMID: 15099348
DOI: 10.1111/j.0009-9163.2004.0212.x

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