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Cytogenetic Profile of Down Syndrome Cases Seen by a General Genetics Outpatient Service in Brazil
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Biselli, Joice; Goloni-Bertollo, Eny; Ruiz, Mariangela; Pavarino-Bertelli, Erika – Down Syndrome Research and Practice, 2009
Down syndrome or trisomy 21 can be caused by three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. The cytogenetic diagnosis, made through karyotypic examination, is important mainly to determine recurrence risks to assist genetic counselling. The object of this work was to carry out a cytogenetic profile of…
Descriptors: Hospitals, Down Syndrome, Patients, Genetics
Relative Contribution of Mutations in Genes for Autosomal Dominant Distal Hereditary Motor Neuropathies: A Genotype-Phenotype Correlation Study
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Dierick, Ines; Baets, Jonathan; Irobi, Joy; Jacobs, An; De Vriendt, Els; Deconinck, Tine; Merlini, Luciano; Van den Bergh, Peter; Rasic, Vedrana Milic; Robberecht, Wim; Fischer, Dirk; Morales, Raul Juntas; Mitrovic, Zoran; Seeman, Pavel; Mazanec, Radim; Kochanski, Andrzej; Jordanova, Albena; Auer-Grumbach, Michaela; Helderman-van den Enden, A. T. J. M.; Wokke, John H. J.; Nelis, Eva; De Jonghe, Peter; Timmerman, Vincent – Brain, 2008
Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of disorders affecting spinal alpha-motor neurons. Since 2001, mutations in six different genes have been identified for autosomal dominant distal HMN; "glycyl-tRNA synthetase (GARS)," "dynactin 1 (DCTN1)," "small heat shock 27 kDa…
Descriptors: Diseases, Patients, Genetics, Psychomotor Skills
Molecular and Cytogenic Analyses on Brazilian Youths with Pervasive Developmental Disorders.
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Estecio, Marcos Roberto Higino; Fett-Conte, Agnes Cristina; Varella-Garcia, Marileila; Fridman, Cintia; Silva, Ana Elizabete – Journal of Autism and Developmental Disorders, 2002
This study evaluated cytogenetic and molecular parameters in 30 Brazilian youths with autism or other pervasive developmental disorders (PDD). The high frequency of chromosomopathies found support the hypothesis that PDDs may develop as a consequence to chromosomal abnormalities and justify the cytogenetic and molecular assessment during diagnosis…
Descriptors: Clinical Diagnosis, Congenital Impairments, Developmental Disabilities, Foreign Countries
Brief Report: A Case of Chromosome 22 Alteration Associated with Autistic Syndrome.
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Assumpcao, F. B., Jr. – Journal of Autism and Developmental Disorders, 1998
A case study is presented of a Brazilian adolescent with a behavioral profile meeting the criteria of autism. After clinical and laboratory examinations, it was found that he had an abnormal karyotype. The need for case studies to develop data for defining an etiological basis for diagnosis is emphasized. (CR)
Descriptors: Adolescents, Autism, Case Studies, Clinical Diagnosis