Susceptibility Regions

acorrigan's version from 2017-05-11 11:15


Question Answer
What are the main susceptibility regions?1p21.1, 15q11.2, 15q13.3, 16p11.2 distal and prox, 16p12.2
What are common features of 1q21.1 deletions & duplications?Developmental delay, mild dysmorphic features, cardiac abnormalities (more common in deletions); hypotonia & short stature are less common
What are the difficulties in counselling patients who carry susceptibility region CNVs?Incomplete penetrance and variable expressivity, very hard to assess what the impact will be for future offspring as many people who have these CNVs are seemingly unaffected.
What features are more commonly seen in 1q21.1 deletions?Microcephaly, cardiac abnormalities, failure to thrive, feeding problems, seizures
What features are more commonly seen in 1q21.1 duplications?Macrocephaly, autism, ADHD, schizophrenia, motor skills disorders
What gene in 1q21.1 region is proposed to be involved in determining head size?HYDIN paralog
Which susceptibility region has the lowest penetrace?15q11.2 deletion (10%), this is followed by 1q21.1.
What is the key gene in the 15q11.2 susceptibility region?NIPA1
What are features of 15q11.2 deletion?Psychomotor delay, speech delay, autism, ADHD, OCD, seizures and some reports of cleft palate and dysmorphic features.
What breakpoints of PWS/AS does the 15q11.2 deletion correspond to?BP1-BP2, it doesn't contain any imprinted genes
What arm of chromosome 16 has several susceptibility regions?The p arm
Which of the chromosome 16 susceptibility regions is most commonly associated with autism?16p11.2 proximal dels/dups
Which of the chromosome 16 susceptibility regions is associated with obestity?16p11.2 proximal 29.5-30.2Mb DELETION ONLY
Which of the chromosome 16 susceptibility regions have an overstated association with obesity?16p11.2 distal 28.8-29Mb deletion
What are common features of the chromosome 16p11.2 proximal deletion and duplications?Developmental delay, autism, intellectual disability, speech and language impairment, reports have also noted dysmorphic features in some patients (dups tend to be more dysmorphic)
What are common features of the 16p12.2 susceptibility region?Neurodevelopmental disorders, developmental delay