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Down Syndrome Updated 4/2011

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BASICS

  • Description
  • Epidemiology
  • Risk Factors
  • General Prevention
  • Etiology
  • Associated Conditions

DIAGNOSIS

  • Signs and Symptoms
  • Tests

TREATMENT

  • Additional Treatment
  • Complementary and Alternative Medicine
  • Surgery
  • In-patient Considerations

Ongoing Care

  • Follow-Up Recommendations
  • Diet
  • Patient Education
  • Prognosis
The following is an excerpt....
BASICS

Description
  • Congenital condition associated with mental retardation and an increased risk of multisystem medical problems
  • One of the most common identifiable causes of mental retardation
  • System(s) affected: Neurologic (100%); Cardiac (40–50%); Gastrointestinal (GI) (8–12%)
  • Etiology: The presence of all or part of an extra chromosome 21
  • Synonym(s): Trisomy 21; DS
ALERT: Pediatric Considerations
  • Congenital heart disease is major cause of morbidity/mortality. Murmur may not be present at birth. Delay in recognition may lead to irreversible pulmonary hypertension.
  • Early treatment of subclinical thyroid disease may improve growth and development (1)[B].
ALERT: Geriatric Considerations
  • Life expectancy has increased to 56 years in 2008 (2).
  • Age-related health issues occur at earlier age than in general ...

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FIGURE 30.26. Fluorescence in situ hybridization in A employed a chromosome 5 painting probe on a cell from a patient with severe mental retardation and self-abusive behavior. On G-banded analysis, an abnormal dark staining band was seen in the p arm of chromosome 1. Using a 24-chromosome painting probe device (Cytocell, Ltd., Oxfordshire, UK), the abnormal segment was identified to be derived from chromosome 5 and confirmed using another chromosome 5 painting probe (Vysis, Inc, Downer's Grove, IL.). A hybridization signal is seen on both normal 5 homologs as well as an inserted segment in the p arm of chromosome 1. His karyotype is 46,XY,ins(1;5). In B, a locus-specific probe cocktail (Vysis, Inc., Downer's Grove, IL) used in the identification of patients with Williams syndrome was applied to a cells from a patient with clinical features of the syndrome. The orange-pink signal identifies the hybridization of a probe containing DNA sequences (including the elastin gene) known to be deleted in Williams syndrome (7q11.23). The green hybridization signal identifies control probes for 7q31. The absence of a signal with the critical region probe on one chromosome 7 identifies a deletion of the elastin gene. Credit: McClatchey KD M.D., D.D.S. Clinical Laboratory Medicine, 2nd Edition. Philadelphia: Lippincott Williams & Wilkins, 2002.
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