Genetic diseases Flashcards
Down’s Syndrome
Trisomy 21 (95% meiotic disjunction, 4% robertsonian translocation, 1% mosaicism)
Edward’s
Trisomy 18
Rocker bottom feet, low set ears, micrognathia, prominent occiput…
More common in females
Patau syndrome
Trisomy 13
Severe mental retardation, microcephaly, coloboma eye, polydactyly, abnormal forebrain structures
Turner Syndrome
45 X
Low hairline, broad chest, short stature, webbed neck, retrognathism
X usually maternal origin
Di George (velocardiofacial)
22q11.2 autosomal dominant
25% of schizophrenia
mild-mod LD, facial deformities (especially cleft palate), malformed parathyroids, broad nasal bridge, speech and swallowing problems
William’s Syndrome
7q11 microdeletion
Hypercalcaemia at birth, supravalvular AS, moderate KD, disinhibited, superficially fluent speech, hyperacusis
Smith-Magenis Syndrome
17p 11.2 microdeletion
mod-severe LD, self-harming behaviour (onychotillomania) + inserting FB, sleep disturbance, self hugging
Angelman Syndrome
15q11-3 deletion (maternal)
Developmental delay, low IQ, hand flapping, frequent smiling, seizures
Prader-Willi Syndrome
15q 11-3 deletion (paternal)
Obesity, short stature, small limbs, low IQ with hyperphagia, skin picking
Cri-du-chat Syndrome
5p 15.2 deletion
Feeding difficulties, cat like cry, poorly defined facial features
Tuberous Sclerosis
9q34 / 16p13 autosomal dominant / spontaneous
Adenoma sebacum, MR / normal IQ, ash leaf macules, brain harmatomas, heart and kidney cysts
Treacher Collins Syndrome
5q 31 autosomal dominant
Maxilla-mandibular hypoplasia, malformed pinna, down slanting palpebrae, mild to mod MR
Apert Syndrome
10q autosomal dominant
Variable MR, craniosyntosis, shallow orbits, trapezoid mouth, mitten hands and feet
Noonan Syndrome
Chromosome 12, autosomal dominant
Mild MR, short stature, nuchal edema / webbed neck, pulmonary stenosis, cryptochordism
Hurler Syndrome
4p 16, autosomal recessive
Deteriorating IQ after 2, coarse facies, clouded cornia, joint stiffness
