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Clinical and molecular genetic study in patients presenting skin pigmentary dysplasia associated with NEUROPSYCHOMOTOR retardation and some dysmorphic features

Grant number: 11/16664-0
Support type:Scholarships in Brazil - Master
Effective date (Start): March 01, 2012
Effective date (End): February 28, 2013
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Chong Ae Kim
Grantee:Aline Cristina Zandoná Teixeira
Home Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Chromossomal aberrations are first suspected etiology in patients with multiple congenital anomalies, neuropsychomotor retardation and/or mental retardation. It appears that in some patients, this phenotype is associated with pigmentary changes such as skin blemishes. However, not always the result of the karyotype in peripheral blood for these patients reveals chromosomal abnormalities. Thus, the cytogenetic analysis of another tissue, such as culture and karyotyping of skin fibroblasts, it is important to verify the presence of hidden mosaicism that could explain the clinical phenotype. In this work we investigate patients presenting with skin pigmentary dysplasia associated with neuropsychomotor retardation and some dysmorphic features, without previous clinical diagnosis, from the Department of ICR (HC FMUSP) using different techniques of cell culture and classical and molecular karyotyping. The identification of cryptic chromosomal abnormalities will help better karyotype-phenotype correlation in addition to genetic counseling to patients and their families. (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)
DE ATHAYDE COSTA, LARISSA SAMPAIO; ZANDONA-TEIXEIRA, ALINE C.; MONTENEGRO, MARILIA M.; DIAS, ALEXANDRE T.; DUTRA, ROBERTA L.; HONJO, RACHEL S.; BERTOLA, DEBORA R.; KULIKOWSKI, LESLIE D.; KIM, CHONG A. Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome. MOLECULAR CYTOGENETICS, v. 8, JUN 26 2015. Web of Science Citations: 2.
Academic Publications
(References retrieved automatically from State of São Paulo Research Institutions)
TEIXEIRA, Aline Cristina Zandoná. Clinical and molecular study in patients with pigmentary skin anomalies associated with developmental delay and/or malformations. 2013. Master's Dissertation - Universidade de São Paulo (USP). Faculdade de Medicina São Paulo.

Please report errors in scientific publications list by writing to: cdi@fapesp.br.