Title 1

Medical MemorizationTips
Ataxia syndromes are numerous and mostly result from autosomal recessive mutations. ATAXIA TELANGIECTASIA (spider-web like vessels on the conjunctiva and some areas of the skin) is a syndrome or phenotype manifesting in bi-allelic individuals (homozygotes or inheritors of an autosomal recessive mutation from both parents) assoicated with chromosomal instability, elevated sensitivity to radiation and risk to develop leukemia and other sorts of neoplasias. Recent investigations suggest that mono-allelic carriers of the ATM mutation have an elevated risk for breast cancer.
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  http://www.ibist-birthdefects.org/start/ataxsyn.htm