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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| show | 10q23.3
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| show | tumor suppressor
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| Cowden syndrome in a nutshell | show 🗑
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| Cowden syndrome phenotype | show 🗑
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| Bannayan-Riley-Ruvalcaba syndrome (BRRS) dx criteria | show 🗑
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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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| show | the growth rate slows and adults with this disorder often attain a height that is within the normal range.
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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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| Williams syndrome mutation | show 🗑
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| Characteristics facial appearance of Williams patients | show 🗑
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| Clinical features of Williams | show 🗑
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| show | supravalvular aortic stenosis occurs in 75% of cases
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| show | Hoarse voice, inguinal/umbilical hernias, joint limitation or laxity, soft skin
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| show | Strengths in verbal short-term memory (songs) and extreme weakness in visuospatial construction
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| Russel-Silver gene mutations | show 🗑
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| show | ~40%
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| Inheritance of RS: most cases are | show 🗑
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| show | Birth weight 2 SDs below the mean
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| show | normal head circumference with appearance of hydrocephalus; triangular face; fifth-finger clinodactyly; limb-length asymmetry;
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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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| Clinical assessment for RS | show 🗑
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| Testing for RS | show 🗑
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Created by:
KChatham
Popular Genetics sets