lecture 27 wilson
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| multifactorial inheritance | determined by 2 or more genes, conditioned by non-genetic influences; examples: cleft lip or palate, congenital heart dz, CAD, HTN, gout, DM, pyloric stenosis
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| advantages of FISH over cytogenetics | able to detect submicroscopic aberrations, can use non-dividing (in interphase) cells for analysis
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| Down syndrome | trisomy 21, most common constitutional chr abnormality, 1/700 births, associated with advanced maternal age
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| physical features of Down syndrom | prominent epicanthal folds, low-set ears, macroglossia, MR, abundant neck skin, duodenal atresia ("double bubble"), congenital heart defects, HYPOtonicity, predisposition to leukemia
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| del(22q11.2) or DiGeorge/velocardiofacial syndrome | microdeletion syndrome causing nasal-sounding speech, congenital heart defects, hypocalcemia and T-cell immunodeficiency b/c 4th pharyngeal pouch is absent = thymic and parathyroid a/hypoplasia
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| trisomy 18 (Edwards syndrome) | lethal trisomy, 1/8000 births, clenched fists/HYPERtonicity can be seen on son, clinodactyly, intrauterine growth defects, congenital heart problems
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| trisomy 13 (Patau syndrome) | lethal trisomy, midline defects = cleft lip and palate, holoprosencephaly, fusion of frontal lobes, agenesis of cerebellar vermis
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| term for inactivation of one X chr | lyonization
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| heteropyknosis of one X chr results in? | Barr body, occurs after 16th day of life
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| higher # of X chr can be associated with greater likelihood of phenotypic effect and MR | XXY, XXXY
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| Turner syndrome | 45XO, 1/2-3,000 births; phenotype: short stature, coarctation of aorta, webbed neck, streak ovaries = menopause before menarche, widely-spaced nipples. usually short females without mental compromise
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| Klinefelter syndrome | XXY or XXXY, 1/500 births, more common than Down syndrome, phenotype: hypogonadism, pear-shaped figure due to overproduction of androgens that are converted peripherally to estrogen, long legs, infertility, no MR
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| genetic sex | determined by presence/absence of sex-determining region of the Y chr (SRY gene)
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| gonadal sex | histological appearance of gonads
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| ductal sex | presence of Mullerian or Wolffian ducts
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| genital or phenotypic sex | appearance of external genitalia
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| true hemaphrodite | have both ovarian and testicular tissue, XX- or XY- cell lines
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| female hemaphrodite | XX with ovaries but male external genitalia b/c they weren't able to respond to estrogens in utero. CAH - defect in enzyme resulting in overproduction of androgens
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| male hemaphrodite | Y chr and testes but external genitalia are ambiguous or overtly female, results from androgen insensitivity, AR is defective so not able to respond even to nl levels of testosterone/DHT
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| Fragile X syndrome | X-linked disorder, 200 or more CGG repeats in noncoding region of FMR-1 gene; phenotype: long face and mandible, large and everted ears, macro-orchidism, 2nd most common cause of MR
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| inheritance pattern of fragile X syndrome | X-linked with differences; female carriers show manifestation usually, worsens with each generation (Sherman paradox) so grandfather was prob not affected, mother was mildly, grandson has full blown dz
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| example of trinucleotide repeat disorder | affects coding region - Huntington dz
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| mitochondrial disorder | COMPLETE maternal transmission; organs that use oxidative phosphorylation are affected, heteroplasmy, threshold effect. ex: Leber hereditary optic neuropathy
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| heteroplasmy | tissues or entire organism harbor both mutant and WT-mitochondrial DNA
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| Prader-Willi | disorder of genomic imprinting & microdeletion syndrome; mother has imprinted (silenced by methylation) chr 15 so when dad passes down chr 15 with microdeletion in that region + mom's silenced chr 15, dz develops
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| Angelman syndrome | disorder of genomic imprinting & microdeletion syndrome; father has imprinted (silenced by methylation) chr 15 so when mom passes down chr 15 with microdeletion in that region + dad's silenced chr 15, dz develops
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| indications for prenatal genetic testing | advanced maternal age, parent has chr aberration, prev child with one, sono-detected abnormalities, parent is carrier of an X-linked disorder
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| indications for postnatal genetic testing | multiple congenital anomalies, MR/developmental delay, suspected autosomal numerical or structural or sex chr aberration, suspected fragile X, infertility, multiple spontaneous ab or FMHx of miscarriages
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