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9 Cards in this Set
- Front
- Back
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ATAXIA-TELANGIECTASIA
Gene, Chromosome, Inheritance |
ATM
Protein: Serine-protein kinase ATM Cytogenetic locus: 11q22.3 Inheritance: AR (carriers may be at risk cancer) |
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ATAXIA-TELANGIECTASIA
Clinical Features |
Progressive cerebellar ataxia (onset age 1-4y), oculomotor apraxia,
conjunctival telangiectasia, immunodef, choreoathetosis, ionizing radiation sensitivity, risk cancer (lymphoma and leukemia) |
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ATAXIA-TELANGIECTASIA
Molecular Testing |
ATM sequencing (>95%). Amish founder mutation
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BLOOM SYNDROME
Gene, Chromosome, Inheritance |
BLM
Protein: Bloom syndrome protein 15q26.1 Inheritance: AR (1/100 carrier freq in Ashkenazi Jewish) |
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BLOOM SYNDROME
Clinical Features |
IUGR, hyper and hypopigmentation, butterfly distribution sun sensitive telangiectasia, microcephaly, high pitched voice, normal intelligence, immunodeficiency, azoospermia, POF, increased risk of cancer (wide distribution of type and site (colon most common), often multiple primary tumors).
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BLOOM SYNDROME
Molecular Test |
BLM 2881 del6ins7 (97% mutant allele in AJ)
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FANCONI ANEMIA
Gene, Chromosome, Inheritance |
FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG BRCA2
BRIP1 , FANCL Inheritance: AR |
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FANCONI ANEMIA
Clinical Features |
Short stature; abnl pigmentation; radial, GU, ear, heart, GI, or CNS malformation; hearing loss, hypogonadism, developmental delay. Progressive bone marrow failure, aplastic anemia, myelodysplastic syndrome, AML, solid tumor of head, neck, esophagus, cervix, vulva, or liver at unusually young age.
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FANCONI ANEMIA
Molecular Test |
Seq and Del/Dup analysis FANCA (66%), Seq analysis FANCB (0.8%), FANCC (9.6%), FANCD1, FANCD2, FANCE, FANCF (~3% each), FANCG (8.8%), FANCL (0.4%) and BRCA2
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