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National Examinations 2010, QAAET, Bahrain,maths, grade 6, paper 2 QNational Examinations 2010, QAAET, Bahrain,maths, grade 6, paper 2 QQAAET_BH
Ähnlich wie Prevalence Of Genetic Disorders 1
Ähnlich wie Prevalence Of Genetic Disorders 1 (6)
Prevalence Of Genetic Disorders 1
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Single gene disorders Chromosome abnormalities
- Autosomal dominant - Changes in number
- Autosomal recessive - Changes in structure
- X-linked dominant - Uniparental disomy
- X-linked recessive - Mosaicism
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Deficient coagulation Incidence in general Chromosome invo
factor population
Fibrinogen 1:1 million 4
Prothrombin 1:2 million 11
Factor V 1:1 million 1
Factor VII 1:500,000 13
Factor VIII 1:10,000 X
Factor IX 1:60,000 X
Factor X 1:1 million 13
Factor XI 1:1 million 4
Factor XIII 1:1 million 6 ( subunit A )
1 ( subunit B )
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Age of onset (years)
Café au lait patches Birth-12 >
Skin-fold freckling >3 8
Lisch nodules >3 >
Cutaneous neurofibromas >7 ( usually late teens ) >
Plexiform neurofibromas:visible Birth 2
Deep-seated Birth> 4
Malignant peripheral nerve sheath 5-75 2
tumor
Scoliosis Birth-18
Scoliosis requiring surgery Birth-18 5
Pseudoarthrosis of the tibia Birth-3 2
Renal artery stenosis Lifelong 2
Phaeochromocytoma >10 2
Cognitive impairment with IQ<70 Birth
Learning problems Birth 3
Attention deficit hyperactivity Birth 3
disorder
Epilepsy Lifelong 6
Optic pathway glioma Birth-7 ( rarely up to 30 )
Cerebral glioma Lifelong 2
Aqueduct stenosis Lifelong
Sphenoidwing dysplasia Birth
Macrocephaly Birth 4
Stature at 10th-25th percentile Birth 3