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Chromosome and subtelomeric study by the G-banding and MLPA technique in pigmentation abnormalities from patients with syndromes associated with malformation

Grant number: 16/19360-5
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): March 01, 2017
Effective date (End): December 31, 2017
Field of knowledge:Biological Sciences - Genetics
Principal Investigator:Leslie Domenici Kulikowski
Grantee:Yanca Gasparini de Oliveira
Home Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil


Majority syndromes associated with malformation are associated with the presence of pigmentation abnormalities. In literature the subtelomeric rearrangements, such as deletions, duplications and translocations are strongly associated with the etiology of these syndromes. However in routine laboratory it is observed that classical karyotyping in peripheral blood doesn't always show the genomic abnormalities in these patients. While they can be observed in cultured fibroblasts from the epithelium sample of pigmentation abnormalities, this is an important alternative for establishing the diagnosis and detection of mosaicism. Furthermore, the application of molecular techniques to the study of fibroblasts of cutaneous pigmentation abnormalities may help to understand the pathogenesis associated with different malformative syndromes. That way, the concomitant performance of the classical karyotype by G-banding and the MLPA technique for the verification of losses and gains in the subtelomeric sequences in these samples may help the diagnosis and explain the phenotypic variability for these patients. Thus, the project proposes to perform classical karyotyping using the G-banding and to verify the subtelomeric sequences by investigating the number of gene copies using the Multiplex Ligation-dependent Probe Amplification (MLPA) test with specific kits (P036 and P070) in fibroblasts obtained from pigmentation abnormalities of patients with malformative syndromes. (AU)

Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
GASPARINI, YANCA; MONTENEGRO, MARILIA M.; NOVO-FILHO, GIL M.; CERONI, JOSE R. M.; HONJO, RACHEL S.; ZANARDO, EVELIN A.; DIAS, ALEXANDRE T.; NASCIMENTO, AMOM M.; COSTA, THAIS V. M. M.; MADIA, FABRICIA A.; CHEHIMI, SAMAR N.; DAMASCENO, JULLIAN G.; KIM, CHONG A.; KULIKOWSKI, LESLIE D. Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines. Cytogenetic and Genome Research, v. 157, n. 3, p. 153-157, 2019. Web of Science Citations: 1.

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