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Start Over Author "Cuoco, C" Journal journal of applied genetics
2 results on '"Cuoco, C"'

2. Interstitial 11q24 deletion: a new case and review of the literature.

Author

Tassano E, Janis S, Canepa A, Zanotto E, Torello C, Gimelli G, and Cuoco C

Subjects
Chromosome Deletion, Chromosomes, Human, Pair 11 genetics, Comparative Genomic Hybridization, Genotype, Humans, Infant, Jacobsen Distal 11q Deletion Syndrome genetics, Male, Phenotype, Jacobsen Distal 11q Deletion Syndrome diagnosis
Abstract

We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of our patient with that of recently reported patients studied by aCGH, who showed an overlapping deletion. We also analysed the gene content of the deleted region in order to investigate the possible involvement of specific genes in the clinical phenotype.

Published
2016
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