Down syndrome (DS) is a congenital condition associated with intellectual disability and an increased chance of multisystem medical problems.
Synonym: trisomy 21
In November 201...
Infant stimulation programs (Early Intervention)
Pediatric cardiologist, if indicated
Vision: Assess for s...
Antonarakis SE, Skotko BG, Rafii MS, et al. Down syndrome.
Nat Rev Dis Primers. 2020 Feb 6;6(1):9.
Bull M, Committee on Genetics...
Q90.0 Trisomy 21, nonmosaicism (meiotic nondisjunction)
Q90 Down syndrome
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
Q90.9 Down syndrome, unspecified
Q90.2 Trisomy 21, translocation
99% of young adults/adults with DS report being happy with their lives.
DS specialty clinics, including virtual ones like dsc2u.org, may improve medical outcomes.
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A. Translocation of the long arms of chromosomes 14 and 21 at the centromere. Loss of the short arms is not clinically significant, and these individuals are clinically normal, although they are at risk for producing offspring with unbalanced translocations. B. Karyotype of translocation of chromosome 21 into 14, resulting in Down syndrome.
A. Translocation of the long arms of chromosomes 14 and 21 at the centromere. Loss of the short arms is not clinically significant, and th...
Trisomy 21 in the karyotype of a child with Down syndrome. All other chromosomes are normal.
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 Gr...
FIGURE 30.26. Fluorescence in situ hybridization in A employed a chromosome 5 painting probe on a cell from a patient with severe mental re...