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Opitz G/BBB syndrome
What are ther causes?
It is now generally agreed that Opitz G/BBB syndromes are clinically indistinguishable, but it is likely that in different families the condition may arise from different genetic changes. This phenomenon is termed genetic heterogeneity and it is important for families because it complicates genetic risk prediction and makes gene testing more difficult.
Probably, there is an Opitz G/BBB gene fault or mutation located on chromosome 22. In a few cases only, a larger chromosome 22q11 deletion has been diagnosed by a special (FISH) chromosome test.
In yet other families, the Opitz G/BBB syndrome gene is located at the tip of the X chromosome in a gene called midline (MID1).
Note that the Opitz G/BBB syndrome is different from another X chromosome condition called Opitz-Kaveggia/FG syndrome, sometimes caused by a change in the MED12 gene.
What are the symptoms?
| Inhertiance patterns and prenatal diagnosis 
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