Chromosomal aberrations in patients with suspected Prader Willi syndrome
DOI:
https://doi.org/10.56294/sctconf2023250Keywords:
Prader Willi Syndrome, Prader Willi-Like SyndromeAbstract
Introduction: Prader-Willi syndrome, caused by the absence of expression of the paternal 15q11-13 region, is the first imprinting defect disorder described in humans. With an incidence of 1 in 10000-15000, its clinical phenotype characterized by hypotonia, obesity and hypogonadism overlaps with a group of genetically heterogeneous syndromes defined as Prader Willi-like syndrome or Prader Willi like. In this group, deletion 1p36, deletion 2p, deletion 6q, among others, are reported.
Objective: to identify chromosomal aberrations in the conventional karyotype of patients with suspected Prader Willi syndrome.
Methods: we analyzed the results of conventional karyotyping in lymphocytes, FISH molecular studies and methylation-based polymerase chain reaction of 112 patients referred during the period 2010-2019 for suspected Prader Willi syndrome. Results: Prader Willi syndrome was confirmed in 45,5 % of the patients. Chromosomal aberrations outside the 15q11.13 region were found in 5,3 % of cases including: chromosome 22 ring, trisomy 21 mosaic, 6p admixture, reverse sex and chromosome 21 inversion.
Conclusions: In patients with Prader Willi phenotype, clinical suspicion is often not confirmed by molecular studies. Conventional karyotyping may reveal Prader Willi-like syndrome due to aberrations at sites involved in neuroendocrine control outside the 15q11.13 region. In these cases chromosomal diagnosis is essential for more effective prevention strategies as part of genetic counseling for patients and families.
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Copyright (c) 2023 Damarys García Gómez, Alina García García, Araceli Lantigua Cruz, Estela Morales Peralta, Arlay Castelví López, Odalis Molina Gamboa, Enny Morales Rodríguez, Anduriña Barrios Martínez, Teresa Collazo Mesa, Lainet Santos Merencio, Michel Soriano Torres, Luis Alberto Méndez Rosado (Author)
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