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The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
A high-resolution genetic map of DS phenotypes based on an analysis of 30 subjects carrying rare segmental trisomies of various regions of HSA21 is presented, demonstrating the value of combining advanced genomics with cohorts of rare patients for studying DS, a prototype for the role of copy-number variation in complex disease.
Psychiatric Disorders in Persons with Down Syndrome
  • B. Myers, S. Pueschel
  • Psychology, Medicine
    The Journal of nervous and mental disease
  • 1 October 1991
Individuals with Down syndrome 20 years and older who were followed as outpatients more often exhibited major depressive disorders and state school residents were found to have an increased prevalence of dementia.
Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress
To compare newborn identification by expanded screening with clinical identification of biochemical genetic disorders and to assess the impact on families of a false-positive screening result compared with a normal result in the expanded newborn screening program.
Voice parameters in children with Down syndrome.
Seizure disorders in Down syndrome.
In the younger age group, primarily infantile spasms and tonic-clonic seizures with myoclonus were observed, and the older patients often had partial simplex or partial complex seizures as well as Tonic-Clonic seizures.
Major depression in a small group of adults with Down syndrome.
Clinical aspects of Down syndrome from infancy to adulthood.
  • S. Pueschel
  • Medicine
    American journal of medical genetics. Supplement
  • 3 June 2005
Care should be provided to and no form of treatment should be withheld from a person with Down syndrome that would be given unhesitatingly to an individual without this chromosome disorder.
Skeletal Anomalies of the Upper Cervical Spine in Children with Down Syndrome
It was showed that a significantly greater number of children with Down syndrome have cervical spine anomalies than an age-and sex-matched group of normal children and children who had atlantoaxial instability had an increased frequency of cervical spine anomaly.
Hyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduaia, somnolence and seizures.
Hyper-beta-alaninemia was found in a somnolent, convulsing infant. Hyper-beta-aminoaciduria (beta-ala, betaAIB and taurine) was also observed, varying directly with plasma beta-alanine concentration.
Thyroid dysfunction in Down syndrome.
This study provides further evidence that there is an increased prevalence of thyroid dysfunction in patients with Down syndrome.