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12 Cards in this Set
- Front
- Back
Cri-du-chat syndrome |
Congenital microdeletion of short arm of
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von Hippel-Lindau disease |
Cavernous hemangiomas in skin, mucosa, organs; bilateral renal cell carcinomas; |
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Fragile X syndrome |
X-linked defect affecting the methylation and
Findings: postpubertal macroorchidism (enlarged testes), long face with a large jaw, large everted ears, autism, mitral valve prolapse.
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Phenylketonuria |
Due to decrease phenylalanine hydroxylase or decrease tetrahydrobiopterin cofactor (malignantPKU). Tyrosine becomes essential.
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Huntington Disease |
“Hunting 4 food.”
Findings: depression, progressive dementia, choreiform movements, caudate atrophy, and levels of GABA and ACh in the brain. Gene on chromosome 4;
trinucleotide repeat disorder: (CAG)n. repeats age of onset.
Alteration of gene expression in Huntington disease is believed to occur due to hyper methylation of histones. Hyper methylated histones bind DNA and prevent its transcription leading to disruption of synthesis of some neurotrophic proteins. |
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Osteogenesis imperfect |
Genetic bone disorder (brittle bone disease) |
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Prader-Willi syndrome |
Maternal imprinting: gene from mom is |
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AngelMan syndrome |
Paternal imprinting: gene from dad is normally |
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Down syndrome |
(trisomy 21), 1:700
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Edwards syndrome |
Findings: severe intellectual disability, rockerbottom feet, micrognathia (small jaw), low-set Ears, clenched hands, prominent occiput,congenital heart disease.
Death usually occurs within 1 year of birth.
1. Face: micrognathia, microstomia, eye defects (microphthalmia, cataracts coloboma), low-set and malformed ears, prominent occiput. -Ears - Edwards
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Turner syndrome |
“Hugs and kisses” (XO) from Tina Turner. [female] (XO)
ovarian dysgenesis (streak ovary), shield chest, heat defect: bicuspid aortic valve, preductal coarctation lymphatic defects result in webbed neck or cystic hygroma - fat in neck. lymphedema in feet, hands),
Most common cause of 1° amenorrhea. No Barr body.
Patients with Turner syndrome may have karyotype 45, XO (complete monosomy), 45X0/46XX (mosaicism), or 46XX (with partial deletion of one X chromosome). Mosaicism appears to account for a majority of cases of Turner syndrome.
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Klinefelter syndrome |
male] (XXY), 1:850 Testicular atrophy, eunuchoid body shape,
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