Supplementary Material for: Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings
Dello Russo P.
Demori E.
Sechi A.
Passon N.
Romagno D.
Gnan C.
Zoratti R.
Damante G.
10.6084/m9.figshare.4004862.v1
https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Microdeletion_15q26_2qter_and_Microduplication_18q23_in_a_Patient_with_Prader-Willi-Like_Syndrome_Clinical_Findings/4004862
<br>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 15q and a microduplication of the distal part of 18q. The unbalanced translocation was found in a boy that was referred with clinical suspicion of Prader-Willi syndrome. In the 15q-deleted region, 23 genes have been identified, and 13 of them are included in the OMIM database. Among these, the deleted <i>IGFR1</i>,<i> MEF2A</i>,<i> CHSY1</i>, and <i>TM2D3 </i>genes could contribute to the patient's phenotype. Seven genes are included in the duplicated chromosome segment 18q, but only one <i>(CTDP1)</i> is present in the OMIM database. We suggest that the deleted chromosome segment 15q26.2qter may be responsible for the phenotype of our case and may also be a candidate locus of Prader-Willi-like syndrome.
2016-10-11 12:43:08
Microdeletion 15q
Microduplication 18q
Prader-Willi syndrome