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Diagnóstico neonatal de síndrome de Prader-Willi

A síndrome de Prader-Willi tem uma prevalência aproximada de 1:25000 nascimentos. No período neonatal há hipotonia severa, atraso de crescimento e dificuldade alimentar que persistem durante o primeiro ano de vida. O quadro clínico inicial contrasta com a bulimia que se evidencia mais tarde e que, não controlada, pode conduzir à obesidade mórbida.Descrevem-se as características clínicas, o diagnóstico genético ...

Prenatal diagnosis of mosaic tetrasomy 18p

To report the case of a prenatally detected de novo mosaic tetrasomy 18p where a combination of different methodologies was used,including conventional cytogenetics and molecular genetics techniques. METHOD: Molecular rapid aneuploidy diagnosis, by quantitative fluorescent polymerase chain reaction (QF-PCR), conventional cytogenetics and fluorescence in situ hybridization (FISH). RESULTS:Amniocentesis was perfo...

A complex chromosomal rearrangement in a child with developmental delay, fracti...

Smith-Magenis Syndrome (SMS) is a micro-deletion syndrome, and encompasses a picture of dysmorphology, mental defect, and fractious behavior. Evaluation of complex chromosome rearrangements (CCRs) and their potential phenotypic consequences is a common challenge in the genetics clinic and knowledge about the genotype/phenotype relationships are limited. We report the case of a 14-year-old boy who was referred...

Perda do cromossoma Y versus doenças hematológicas malignas

A associação clínica entre a perda do cromossoma Y (PY) e as doenças hematológicas malignas é um tema controverso, uma vez que ambos os acontecimentos estão correlacionados com o envelhecimento. Tendo como objetivo, tentar obter uma correlação entre a perda do cromossoma Y e as diferentes doenças hematológicas malignas, procedeu-se a um estudo retrospetivo de 15 anos, dos resultados citogenéticos de 1241 indiví...

A "de novo" inv dup del(6q) - a case report

Abstrat publicado em: Chromosome Research. 2003;21(Suppl 1):S1–S168. doi:10.1007/s10577-013-9364-x

A de novo complex chromosome rearrangement (CCR) involving chromosome 5, 6 and 15

Abstrat publicado em: Chromosome Research. 2003;21(Suppl 1):S1–S168. doi:10.1007/s10577-013-9364-x

9q34.3 microdeletion by MLPA in a fetus with cardiac defects

Abstrat publicado em: Chromosome Research. 2003;21(Suppl 1):S1–S168. doi:10.1007/s10577-013-9364-x

Interstitial dup(6)(q22.3q24) characterized by cCGH resulting from familial inv...

Abstrat publicado em: European Journal of Human Genetics. 2003;21(Suppl 2):480

A case of de novo complex chromosomal abnormality involving a t(8;10) and an in...

Interstitial deletions of the long arm of chromosome 5 involving the region 5q33.1-q34 are rare occurrences. The clinical features of patients carrying similar deletions include dysmorphic facial features, such as epicanthus, retrognatia, protruding left ear and asymmetric mouth, high-arched palate, four inger lines and clinodactyly of digits II and V on both hands. We report on a female child aged 13 presentin...

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