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5 Cards in this Set
- Front
- Back
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Chromosomal |
part or whole chromosome missing, duplicated or translocated Trisomy 21; Chronic Myelogenous leukemia |
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MIcrodeletion or Microduplication Syndromes |
A piece of a chromosome is missing or duplicated, too small to be seen on a standard karyotype. DiGeorge (VCF) syndrome(22q11); Williams syndrome (del 7q11) |
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Single Gene disorder |
Autosomal dominant, recessive or X-linked Marfan; cystic fibrosis, Sickle cell, Dushene MD |
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Multifactorial |
combination of genetics and environment.
Cleft lip and palate; club foot; NTD's |
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Triplet repeat expansions |
Trinucleotide repeats
Fragile X associated Disorders |
