genetics col 2, pathologies

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• a syndrome which almsot exclusively is seen in females, 1 in 10 000 females, it is inherited in X linked dominant pattern rett syndrome
• rare genetic neurological and developmental disorder, that affects the way the brain develops - usually arrested develop in between 6 and 18 months of age rett syndrome
• pathology in which MECP2 is defect and cant methylate genes properly rett syndrome
• regression, loss of purposeful hand skills, repetitive hand movements, breathing irregularities, motor difficulties and cognitive impairment are all symptoms of Rett syndrome. TRUE OR FALSE true
• is most common in females because it is lethal for males rett syndrome
• share overlappign features with autism and is X linked dominant rett syndrome
• caused by deletion of maternal chromosome 15 angelman syndrome
• maternal copy of UBE3A helps brain develop, maternal copy in this pathology is missing, so brain cant devlop as it should angelman syndrome
• symptoms are delayed development, problems with speech and development, mental disability, and person seems happy and laughs often angelman syndrome
• uniparental disomy of chromosome 15, if paternal angelman syndrome
• share overlapping features with autism and is inherited in autosomal dominant inheritance angelman syndrome
• part of paternal chromosome 15 is missing or deleted prader willi syndrome
• the loss of gene OCA2 causes unusaully fair skin and light coloured hair and is connected to which pathology? prader willi syndrome
• a key feature is constant sense of hunger prader willi syndrome
• people with this syndrome might develop type 2 diabetes due to overeating prader willi syndrome
• loss of maternal chromosome 11 or if autosomal dominant inheritance a mutation in the maternal chromosome 11 beckwith wiedemann syndrome
• large body size, taller than average height, large tongue and hypoglyceamia beckwith wiedemann syndrome
• CDKN1C is responsible for inhibition of insulin like growth factor, in ... this is not produced because it is produced by matenrnal chromosome 11 and it is missing beckwith wiedemann syndrome
• either sporadic (de novo) or maternally inherited pathogenic variant of the CDKN1C gene beckwith wiedemann syndrome
• a rare disorder characterized by intrauterine growth resitriction, poor growth, relatively large head size, a triangular facial appearance silver russell syndrome
• loss of paternal chromosome 11 or in case of autosomal dominant inheritance: paternal mutation of chromosome 11 silver russel syndrome
• can be caused by maternal uniparental disomy of chromosome 7 silver russell syndrome
• in angelman syndrome is long (q) or short arm (p) that is affected (write only 1 letter) q
• in prader willi syndrome is long (q) or short arm (p) that is affected (write only 1 letter) q
• in beckwith wiedemann syndrome is long (q) or short arm (p) that is affected (write only 1 letter) p
• in silver russell syndrome is long (q) or short arm (p) that is affected (write only 1 letter) p

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