Term
| Chromosomal disorders - numerical abnormalities |
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Definition
| Down Syndrome, Klinefelter Syndrome, Turner Syndrome |
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Term
| Genetic and inherited mutations |
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Definition
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Term
| Not inherited genetic disorder |
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Definition
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Term
| Chromosomal disorders - structural abnormality (deletion, translocation, inversion, duplication, etc of chromosomes) |
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Definition
| Wolf-Hirschhorn Syndrome, Cri-du-Chat Syndrome |
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Term
| Autosomal dominant condition (single-gene disorder) |
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Definition
| Achondroplasia (type of dwarfism where trunk size is normal but head and extremities are small), Waardenburg syndrome, types of osteogenesis imperfecta |
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Term
| Autosomal recessive condition (single-gene disorder) |
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Definition
| Cystic Fibrosis, Sickle cell disease |
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Term
| X-linked recessive inheritance (single-gene disorders) - usu. female carriers and affect sons |
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Definition
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Term
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Definition
| autism, schizophrenia, depression, ADHD |
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Term
| Genetic disorder classification |
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Definition
| 2 or more major organ systems are impaired |
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Term
| Characteristics of genetic disorders |
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Definition
| hypotonicity, skeletal deformities, cognitive impairments, microcephaly, short stature/growth deficits |
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Term
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Definition
1. Examine pt for malformation, dysplasia, deformation
2. refer to geneticist
3. family support and providing info to MD throughout process of medical Dx
4. accurate Dx leads to more accurate expectations and prognosis for goal setting and intervention planning |
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Term
| Impairments that lead to activity limitations |
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Definition
| hypotonicity, tactile defensiveness, dec. motor planning, weakness of proximal muscles, endurance deficits, skeletal deformities, growth deficits |
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Term
| psychosocial aspects of genetic disorders |
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Definition
| "looking" for Dx (internet); decisions regarding having more children; parental guilt related to "passing gene" to child or blame; informing other family members in case of heredity; future reproductive decisions; what and when to tell carrier children; biological effects on carrier children |
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