https://repositorio.ufba.br/handle/ri/12819
Tipo: | Artigo de Periódico |
Título: | Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1) |
Título(s) alternativo(s): | American Journal of Medical Genetics Part A |
Autor(es): | Moreira, Lilia Schinzel, Albert Baumer, Alessandra Pinto, Paula Góes, Fátima Falcão, Maria de Lourdes Lima Barbosa, Ana Luiza Riegel, Mariluce |
Autor(es): | Moreira, Lilia Schinzel, Albert Baumer, Alessandra Pinto, Paula Góes, Fátima Falcão, Maria de Lourdes Lima Barbosa, Ana Luiza Riegel, Mariluce |
Abstract: | Rieger syndrome (RS; OMIM 180500) is a rare autosomal dominant disorder of morphogenesis, with ocular and systemic abnormalities and variability in phenotypic expression. Some patients with RS presented with a deletion of the band 4q25 to which the homeobox gene PIT X2 (former RIEG) was mapped. To study the natural history and perform a genotype–phenotype correlation, we followed a girl with RS from the age of 1 year to puberty. The study included physical examination, clinical and psychological evaluation, and cytogenetic analysis with GTG-banded karyotype and array CGH. Additionally, molecular analysis using microsatellite markers for chromosome 4 (D4S427, D4S194 and D4S1615) was performed. Conventional chromosome analysis showed a 4q deletion, and aCGH confirmed the determination of the breakpoints at 4q25 and 4q31. With the exception of the typical features of RS is the patient, the clinical manifestations were relatively mild, despite the relatively large size of the deleted chromosome segment. The patient was periodically re-evaluated for several years. The teeth are still abnormal, and she is still under orthodontic treatment. The facial features were attenuated with age. Currently, she is under constant monitoring of eye pressure. She benefited from early intervention program, and her tonus is normal. She attends a normal school with minor learning difficulties. In conclusion, this study offers a comprehensive phenotypic delineation of RS through almost two decades and may contribute to a more accurate genetic counseling in cases of this syndrome. |
Palavras-chave: | Rieger syndrome Del 4q25–q31.1 Iris development Orthodontic rehabilitation MCA/MR syndrome Follow-up study aCGH |
URI: | http://www.repositorio.ufba.br/ri/handle/ri/12819 |
Data do documento: | 2010 |
Aparece nas coleções: | Artigo Publicado em Periódico (Biologia) |
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