Genotypephenotype Correlations

There is wide variability of clinical symptoms, even within complementation groups. The type of mutation in a given FA gene seems to be of more importance for the clinical outcome than the complementation group it-self.[13,14] An exception is group D1 (mutated in BRCA2, Ref. [8]), which as a group seems to be more severely affected than the non-D1 groups.[15-17] Within group C, the splice site mutation IVS4 + 4A > T, which accounts for over 80% of all FA in Ashkenazi Jewish people,[18] is much more severe than the exon 1 frame-shift mutation 322delG, which is relatively prevalent in the Nether-lands.[19] Within group A, null mutations are significantly more severe than missense mutations or microdeletions/ insertions that still allow near full-length protein to be made.[13] Group G patients seem to be more severely affected than group A/C patients.[13] There is as yet no definite evidence for any health effects for heterozygous FA gene mutation carriers.

THE DIAGNOSIS ''FANCONI ANEMIA''

Clinical suspicion of FA always needs to be confirmed by a chromosomal breakage test[20] to exclude syndromes

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook


Post a comment