RESUMO
Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X mental retardation gene (FMR1). In the present study, blood and buccal cells of 53 mentally retarded patients were molecularly analyzed for FMR1 mutation by PCR. Our data revealed that DNA extraction from buccal cells is a useful noninvasive alternative in the screening of the FMR1 mutation among mentally retarded males.
Assuntos
Humanos , Masculino , Pré-Escolar , Criança , Adolescente , Adulto , DNA , Testes Genéticos , Proteína do X Frágil da Deficiência Intelectual/genética , Síndrome do Cromossomo X Frágil/diagnóstico , Mucosa Bucal/química , Mutação/genética , Estudos de Viabilidade , Síndrome do Cromossomo X Frágil/genética , Reação em Cadeia da PolimeraseRESUMO
We selected 114 dysmorphic syndromes, and based on published data, have elaborated a general picture, including characteristic clinical, radiological and pathological signs. This database was prepared to run on personal computers. lt is possible to browse or search for the syndromes, features and references, among other characteristics.The dysmorphic syndromes were divided into two different sets, according to their mode of inheritance. The first comprises 78 monogenic syndromes with defined inheritance, while the second comprises 36 presently undefined syndromes with suggested monogenic inheritance. Among the first group, 53 have autosomal recessive inheritance. Although in almost half of the syndromes death is mostly perinatal, longer survival can be found. The organic systems involved among the 114 syndromes studied were as follows: Osteoarticular 81 per cent, cardiovascular 54 per cent, genitourinary 47 per cent, central nervous system 42 per cent, respiratory 41 per cent and gastrointestinal 37 per cent. Abnormalities of the osteoarticular system was the main cause of death in the majority of the syndromes.
Assuntos
Humanos , Recém-Nascido , Anormalidades Múltiplas/mortalidade , Doenças Genéticas Inatas/mortalidade , Mortalidade Infantil , Sistemas de Informação , Anormalidades Múltiplas/genética , SíndromeAssuntos
Humanos , Feminino , Gravidez , Recém-Nascido , Adulto , Anormalidades Congênitas/etiologia , Teratogênicos , Serviços de Informação , Fatores de TempoRESUMO
This report ilustrates a case of Leri-Weill dyschondrosteosis in mother and daughter and discusses the relationship of this bone dysplasia with Madelung's deformity
Assuntos
Criança , Adulto , Humanos , Feminino , Osteocondrodisplasias , Diagnóstico Diferencial , Osteocondrodisplasias/genéticaRESUMO
A woman had clinicoradiological features of osteopetrosis. The dominant and recessive forms of this condition are discussed