Article
Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.
Cytogenetic and genome research - 1 Jan 2016
Dello Russo Patrizia, Demori Eliana, Sechi Annalisa, Passon Nadia, Romagno Daniela, Gnan Chiara, Zoratti Raffaele, Damante Giuseppe
Abstract excerpt
The small interstitial deletion in the long arm of chromosome 15 causing Prader-Willi/Angelman syndrome is well known, whereas cases that report terminal deletions in 15q in association with the Prader-Willi-like phenotype are very rare. By using GTG-banding analysis, metaphase FISH, MLPA analysis, and genome-wide array CGH, we detected an unbalanced translocation involving a microdeletion of the distal part of...
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