PTEN, Sotos, Williams, RS, etc.
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
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| PTEN Disorders | show 🗑
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| show | PTEN Hamartoma tumor syndrome (PHTS)
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| PTEN Gene | show 🗑
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| PTEN Gene, normal function... | show 🗑
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| Cowden syndrome in a nutshell | show 🗑
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| Cowden syndrome phenotype | show 🗑
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| show | intestinal DO characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis, eye problems.
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| show | complex, high variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses
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| show | tissues of the bone, skin, CNS, eye, connective tissue
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| Proteus-like syndrome | show 🗑
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| show | AD
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| show | before birth
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| As BRRS infants age, | show 🗑
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| Infants affected with BRRS | show 🗑
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| show | Incidence 1 in 10,000 to 14,000 LBS, NSD1 gene at 5q35, 95% de novo rate, Possible AD inheritance, 100% have macrocephaly by 14 y/o
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| show | Overgrowth in childhood, developmental delay, behavioral issues, Characteristic facial features
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| Characteristic facial features in Sotos patients | show 🗑
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| Behavioral issues in Sotos patients | show 🗑
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| show | in the normal range
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| MRI findings for Sotos patients | show 🗑
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| With Sotos, always rule out... | show 🗑
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| show | del 7q11.23 (90%) AD
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| show | Broad brow, stellate iris, short nose and full nasal tip, full lips and wide mouth, prominent ears, eflin like
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| show | Unique personality, mental retardation, specific cognitive profile, connective tissue abnormalities, cardiovascular disease, hypercalcemia
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| show | supravalvular aortic stenosis occurs in 75% of cases
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| Connective tissue abnormalities in Williams patients | show 🗑
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| Specific cognitive profile of Williams patients | show 🗑
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| show | chromosome 11, methylation involving the h19 and IGF2 genes
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| Maternal UPD causes what percent of RS? | show 🗑
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| Inheritance of RS: most cases are | show 🗑
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| IUGR, Postnatal growth retardation and RS | show 🗑
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| Clinical features of RS | show 🗑
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| show | Pre and postnatal growth deficiency, absence of craniofacial characteristics, speech delay, poor feeding, excessive sweating without episodes of hypoglycemia
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| show | usually slim or underweight, normal head size but appears large because of small body; episodes of hypoglycemia; asymmetrical limbs
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| Testing for RS | show 🗑
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Created by:
KChatham
Popular Genetics sets