6 documents found, page 1 of 1

Eating behaviors, body image, perfectionism, and self-esteem in a sample of Por...

Objective: Eating disorders are an increasingly prevalent health problem among adolescent girls. It is well known that biological, psychosocial, and family-related factors interact in the development of this group of disorders. However, the mechanisms underlying the interaction between these variables are still poorly understood, especially in Portuguese adolescents. The aim of this study was to investigate the...

A Propósito do Artigo “Adults with Down Syndrome: Characterization of a Portugu...

Regarding the Article “Adults with Down Syndrome: Characterization of a Portugu...

Keywords: Adult; Down Syndrome; Portugal.; Palavras-chave: Adulto; Síndrome de Down, Portugal.

Cromossomopatia com Cariotipo Normal em Linfócitos: Caso Clínico

A trissomia 22 em mosaico é uma cromossomopatia particularmente rara de que foram publicados apenas 10 casos, dois dos quais do sexo masculino. Descrevemos o terceiro caso desta situação numa criança de um ano de idade. Referimos as circunstâncias em que um estudo citogenético normal não permite excluir o diagnóstico de cromossomopatia.

Tetra-amelia and lung hypo/aplasia syndrome: New case report and review

Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra-amelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal (46,XX) and premature centromere separation was excluded. No mutation was identified upon mo...

An explanation for another familial case of Rett syndrome: maternal germline mo...

Rett syndrome (RTT; OMIM#312750) is a severe neurodevelopmental disorder that affects mainly girls. It has an estimated incidence of 1:10,000-15,000 females. Mutations in the X-linked gene methyl CpG-binding protein 2 (MECP2) have been found in most patients. The most accepted explanation for the sex bias is that the Rett mutation in sporadic cases has its origin in the paternal germline X chromosome and can th...