exudates and DiGeorge-Syndrome

DiGeorge syndrome is a genetic disorder that is related to a wide range of defects affecting various parts of the body. The clinical expression shows marked variability making the diagnosis often missed or underdiagnosed. Here, we describe a neonate who presented with loud inspiratory stridor secondary to hypocalcaemia at birth. Physical examination revealed no abnormality other than evidence of congenital cardiac defect. Laboratory evaluations confirmed the diagnosis of maternal vitamin D deficiency that led to symptomatic hypocalcaemia in the newborn infant. The presence of hypocalcaemia coupled with episodes of recurrent infections led to the clinical suspicion of DiGeorge, which was later confirmed by fluorescence in situ hybridisation test.

Topics: DiGeorge Syndrome; Humans; Hypocalcemia; Infant; Infant, Newborn; Infant, Newborn, Diseases; Malaysia; Vitamin D; Vitamin D Deficiency

The 22q11.2 deletion syndrome (22q11.2DS) is the most common form of deletion disorder in humans. Low copy repeats flanking the 22q11.2 region confers a substrate for nonallelic homologous recombination (NAHR) events leading to rearrangements which have been reported to be associated with highly variable and expansive phenotypes. The 22q11.2DS is reported as the most common genetic cause of congenital heart defects (CHDs).. A total of 42 patients with congenital heart defects, as confirmed by echocardiography, were recruited. Genetic molecular analysis using a fluorescence. Two of the 42 CHD cases (4.76%) indicated the presence of 22q11.2DS, and interestingly, both cases have conotruncal heart defects. In terms of concordance of techniques used, MLPA is superior since it can detect deletions within the 22q11.2 locus and outside of the typically deleted region (TDR) as well as duplications.. The incidence of 22q11.2DS among patients with CHD in the east coast of Malaysia is 0.047. MLPA is a scalable and affordable alternative molecular diagnostic method in the screening of 22q11.2DS and can be routinely applied for the diagnosis of deletion syndromes.

Topics: DiGeorge Syndrome; Female; Gene Deletion; Humans; In Situ Hybridization, Fluorescence; Incidence; Infant, Newborn; Malaysia; Male; Molecular Diagnostic Techniques; Multiplex Polymerase Chain Reaction; Pilot Projects