Pathology 3500 Lecture Notes - Lecture 22: Teratology, Malabsorption, Low-Density Lipoprotein

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Sex chromosomes: turner syndrome (xo, klinefelter syndrome (xxy, down syndrome (trisomy 21, most common chromosomal disorder, major cause of mental handicap, parents have a normal karyotype, significant increase risk with maternal age, features. Flat facial profile and epicanthic folds: palpebral fissure, mental handicap, abundant neck skin, congenital heart disease. Increased risk of acute leukemia: how does the extra 21 lead to this - we don"t know , don"t know the pathiogenisis. Infertile (primary amenorrhea) never get a period: kleinfelter syndrome (47xxy, most common sex chromosome abnormality in males, features. Infertile: elongated body (abnormal long legs, no mental handicap, present at puberty - don"t get pu(cid:271)erty. Structural abnormities: result of chromosome breakage followed by loss or rearrangement of genetic material. Involve a single gene but with large effect (partial to full expression of loss: monogenetic or mendelian disorders, 80-85% are familial (inherited) remainder are new mutations, patterns of inheritance, autosomal dominant, autosomal recessive, x linked.

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