Assuntos
Feto/anormalidades , Ultrassonografia Pré-Natal/psicologia , Feminino , Humanos , Gravidez , Apoio SocialRESUMO
A 22 year old woman with partial trisomy for the long arm of chromosome 2 is described. The karyotype is 46,XX, dir dup(2)(q33.1q35) de novo confirmed by FISH using a chromosome 2 specific paint. Parental chromosome studies were normal. To our knowledge this is the first report of trisomy for this specific segment of 2q and only the sixth case of de novo direct duplication of 2q, one of which was mosaic. Clinical features include epicanthus, clinodactyly, scoliosis, broad, flat nasal bridge, thin upper lip, long philtrum, and short neck.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/genética , Cromossomos Humanos Par 2/ultraestrutura , Deficiência Intelectual/genética , Trissomia , Adulto , Transtornos Cromossômicos , Pálpebras/anormalidades , Feminino , Humanos , Nariz/anormalidades , Escoliose/genéticaRESUMO
Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syndrome (PWS). Molecular analysis showed maternal uniparental disomy for chromosome 15. Meiotic recombination between the two disomic chromosomes 15 has resulted in heterodisomy for proximal 15q and isodisomy for distal 15q. In this individual BS is probably due to homozygosity for a gene that is telomeric to D15S95 (15q25), rather than to genetic imprinting, the mechanism responsible for the development of PWS. This report represents the first application of disomy analysis to the regional localization of a disease gene. This strategy promises to be useful in the genetic mapping of other uncommon autosomal recessive conditions.
Assuntos
Síndrome de Bloom/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 15 , Síndrome de Bloom/diagnóstico , Mapeamento Cromossômico , Diagnóstico Diferencial , Humanos , Recém-Nascido , Masculino , Mães , Não Disjunção Genética , Polimorfismo de Fragmento de Restrição , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/genética , Sequências Repetitivas de Ácido Nucleico , Troca de Cromátide Irmã , TelômeroAssuntos
Transtorno da Personalidade Antissocial/reabilitação , Psiquiatria Legal , Hospitais Especializados , Defesa por Insanidade , Transtornos Mentais/reabilitação , Medidas de Segurança/legislação & jurisprudência , Alabama , Transtorno da Personalidade Antissocial/diagnóstico , Transtorno da Personalidade Antissocial/psicologia , Terapia Combinada , Internação Compulsória de Doente Mental/legislação & jurisprudência , Prova Pericial/legislação & jurisprudência , Humanos , Transtornos Mentais/diagnóstico , Transtornos Mentais/psicologia , Meio SocialRESUMO
We report the clinical findings in a boy with mosaicism for a duplication of chromosome 12q13.1-->q24.2. His clinical characteristics are very similar to previously reported mosaic duplications of the distal long arm of 12, as well as several cases with non-mosaic duplications. It is proposed that this represents a clinically distinguishable syndrome for 12q duplication, in mosaic or non-mosaic form.