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Genetic Syndromes/Mutations

Across
Hutterites - defect in EMG1 gene that codes for a protein that aids assembly of ribosomes.
Chromosome 8 - lacks gene that codes for RecQ helicase for replication of telomeres
White forelock - autosomal recessive
Progressive bone marrow failure - cause = problem with synthesis of RNA component of telomerase
Deletion of chrom 15 (from mother) - frequent laughter, uncontrolled muscle movement, large mouth, and unusual seizures.
Distinctive facial features, heart defects, high blood pressure, cognitive impairment - deletion of chromosome 7
Down
Deletion of part of chromosome 4 - seizures, severe intellectual disability, and delayed growth.
Feeding difficulty at early age - obese by 1 year - mild to moderate intellectual disability - deletion of chrom 15 (from Father)
Recessive allele causes intellectual disability - does not have enzyme to metabolize phenylalanine
Deletion on the short arm of chromosome 5 - peculiar, catlike cry of infants
Accumulation of lipid in the brain