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Chromosomal syndrome regions

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acorrigan's version from 2017-05-12 16:10

Section

Question Answer
What chromosomal region is involved in Prader-willi & Angelman syndrome?15q11-q13
What syndrome(s) or disease might you suspect with neonatal hypotonia?Prader-willi, Phelan McDermid, Smith-Magenis, Spinal Muscular Atrophy (SMN1), Muscular Dystrophy
What is thought to be the critical gene in 22q11.2 syndrome?TBX1
What region of the genome is deleted in Cri-du-chat?Terminal 5p
What syndrome is associated with greek warrior helmet features?Wolf-Hirschhorn
What syndrome is associated with a terminal 22q deletion?Phelan-McDermid
What is the critical gene in Phelan-McDermid syndrome?SHANK3
What is the key gene in Cri-du-chat?TERT telomerase reverse transcriptase
What is the main feature of Miller Dieker Lissencephaly?Smooth brain, absence of folds.
What syndrome is associated with terminal deletion of 17p?Miller Dieker Lissencephaly
What chromosomal region is associated with Smith-Magenis and Potocki-Lupski syndrome?17p region adjacent to the centromere
What is the distinctive feature of Cri-du-chat?High pitched cat like cry
What syndromes are associated with heart defects?22q11.2, Turner syndrome, Noonan, Miller-Dieker, Smith-Magenis, Wolf-Hirshhorn
What syndromes are commonly associated with epilepsy?Wolf-Hirschhorn syndrome, Angelman syndrome, Miller-Dieker, Down syndrome (8%), Fragile X syndrome
State 4 key features of Phelan-McDermid syndromeHypotonia, absence of /or very delayed speech, global developmental delay, normal / accelerated growth
State 4 key feaures of Wolf-Hirschhorn syndromeDysmorphic craniofacial features: broad forehead, hypertelorism, flat nasal bridge, micrognathia, microcephaly; seizures, closure defects: cleft palate, coloboma of eye, cardiac septal defects; pre and post natal growth deficiency
State 4 key features of Cri-du-chat syndromecat like high pitched cry, hypotonia, psychomotor and mental retardation, carniofacial dysmorphism: microcephaly, round face, micrognathia, hypertelorism, low set ears, epicanthal folds
State 4 key features of Miller Dieker syndromelissencephaly - smooth brain, cardiac & kidney malformations, seizures & abnormal EEG, hypoplastic external male genitalia, cognitive impairment, growth retardation, carniofacial dysmorhpism: microcephaly, narrow forehead, small nose & chin, downslanting palpebral fissures, wrinkled skin over glabella
Which syndrome can cause hearing loss and peripheral neuropathy?Smith-Magenis / Potocki-Lupski
What is the most common mechanism of chromosomal del / dup in the syndrome regions?Arise due to low copy repeats, homologous sequences, mispairing during crossing over at meiosis
What alternate mechnisms of del/dup should be considered?Balanced reciprocal translocations in the parents, inversion events in the parents with crossing over in the inverted segment during meiosis
State 4 key features of Angelman syndromeHappy/excitable demeanor, seizures, movement/balance issues, absent or very delayed speech, intellectual disability, developmental delay, sleep difficulties and ADHD.
State 4 key features of Prader-willi syndromeHypotonia, poor feeding as neonate, poor growth, obsession with food, short stature, behaviour issues, mild to moderate intellectual disability, developmental delay, delayed / absent puberty, underdeveloped genitalia (maes & females)
Which parental copy of 15q11-q13 is missing in PWS?Paternal copy deleted
Which parental copy of 15q11-q13 is missing in AS?Maternal copy deleted
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