Down syndrome is confirmed through cytogenetic studies which confirm trisomy 21. In addition complete blood count with differentials is performed to rule out leukemia, TSH and T4 are performed at birth, 6 months, 1 year and then annually to rule out hypothyroidism. Low level of IgG subclass 4 are correlated with bacterial infections. The mosaic trisomy 21 includes lymphocyte preparations, FISH, buccal mucosa cellular preparations and scoring frequency of trisomic cells.
Down syndrome laboratory findings
Hunter syndrome laboratory findings
Growth hormone deficiency diagnostic criteria
Asperger syndrome laboratory findings
Turner syndrome laboratory findings
Noonan syndrome laboratory findings
Growth hormone deficiency laboratory findings
Mental retardation MRI