Tag Archives: DiGeorge syndrome

Unboxing the role of TBX1 in palatal development: a gene profiling study

Cleft palate (CP) is a disease where there is an opening or split in the palate (the roof of the mouth). CP has been reported in 1 to 2 of every 1000 births worldwide and is the

22q11.2 deletion syndrome diagnosed in a young patient presenting with Parkinson disease

Chromosome 22q11.2 deletion syndrome (22q11.2DS), also called DiGeorge syndrome, is a fairly common genetic syndrome. In most cases, the diagnosis is made at birth or early in childhood as the most common features of the syndrome –