ABSTRACT
We have studied two brothers with submicroscopic 22q11 deletion. One brother had findings suggestive of DiGeorge syndrome, while the other had milder anomalies, including polydactyly. Fluorescence in situ hybridization (FISH) showed a minor cell line with deletion 22q11 in the mother. To our knowledge, this is the first report of a deletion of 22q11 in two sibs with different phenotypes and apparent maternal mosaicism detected with FISH. This family illustrates the variability of the syndrome and further demonstrates the possibility of gonadal mosaicism for a microdeletion. Prenatal diagnosis may be offered after the birth of a child with a 22q11 deletion, even in the absence of parental chromosomal anomalies.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 22/genetics , Child , Child, Preschool , Chromosome Banding , DiGeorge Syndrome/genetics , Genetic Markers , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male , Mosaicism/genetics , PhenotypeSubject(s)
Child Development/drug effects , Growth/drug effects , Hydrocortisone/therapeutic use , Respiratory Distress Syndrome, Newborn/drug therapy , Clinical Trials as Topic , Electroencephalography , Follow-Up Studies , Humans , Hydrocortisone/administration & dosage , Hydrocortisone/adverse effects , Immunity/drug effects , Infant , Infant, Newborn , Injections, Intravenous , Motor Skills/drug effects , Nervous System/drug effects , Nervous System Diseases/chemically induced , PlacebosABSTRACT
The association of arthritis, arthralgia, and various types of skin rashes, as a prodrome to viral hepatitis, although well recognized in adults, has not been well described in children. In an 18-month period, three children presented with this serum sickness-like illness before the onset of evident liver involvement. In one case, the prodromal symptoms occurred four weeks before biochemical or clinical evidence of hepatitis. The SSLI tended to subside with the onset of clinically evident liver disease. Hepatitis B surface antigen (HBsAg, Australia antigen) was detected in the sera of two patients, but free antibody to the antigen was not demonstrable in either one. Serum complement levels were low during the prodromal phase and tended to return to normal value at the onset of extensive liver involvement. The diagnosis of viral hepatitis should be considered in children presenting with polyarthritis, polyarthralgia, and a rash (serum sickness-like illness) of uncertain etiology.