Perinciple conditions Flashcards
*Affects females
*Short stature
*Ovarian dysgenesis (amenorrhea and lack of puberty/secondary sexual characteristics, most infertile)
*Triangle face
*Posteriorly rotated ears
*Broad webbed neck
*Broad shield shaped chest
*Hand and feet lymphoedema
turner’s syndrome
*Bicuspid aortic valve
*Coarctation of aorta
turner’s syndrome
45X/45XO
turner’s syndrome
only 1 x from mum absence y from dad
turner’s syndrome
1 in 6000 births
*Gastrointestinal defects (such as esophageal atresia)
*Central Nervous System (CNS) defects
*Orofacial clefts
*Overlapping fingers
*Microphthalmia - eyes do not develop fully
*Radial aplasia/hypoplasia – affects radius
edward syndrome
septal defects, PDA
edward syndrome
horseshoe kidney
edward syndrome
*Tall, long arms and legs
*Hypogonadism (reduced physiological activity of testes)
*Small testes
*Infertility
*Low testosterone levels
*Gynaecomastia seen in one third of affected persons (increased risk of breast cancer)
*Mild learning difficulties
klinefelter’s syndome
non disjunction at birth causing XXY
klinefelter’s syndome
autosomnal means
non sex
*Depressed nasal root
*Upslanting palpebral fissures
*Brachycephaly
*Flat midface
*Short stature
*Redundant skin on the back of neck
*Short and broad hands and feet
*Single palmar crease
*Hypotonia
down’s syndrome
what chromosome is down’s
21
*Severe intellectual disability
*Heart defects
*Low set ears, brain or spinal cord defects
*Microphthalmia
*Extra fingers or toes (polydactyly)
*Cleft lip/palate
*Clenched hands (outer fingers on top of the inner)
patau’s syndrome
*Affects females
*Short stature
*Ovarian dysgenesis (amenorrhea and lack of puberty/secondary sexual characteristics, most infertile)
*Triangle face
*Posteriorly rotated ears
*Broad webbed neck
*Broad shield shaped chest
*Hand and feet lymphoedema
3. *Bicuspid aortic valve
*Coarctation of aorta
turner’s syndome
45X/45XO
turner’s syndrome
only 1 x from mum absence y from dad
turner’s syndrome
what chromosome is edwards
chromosome 18
what trisonomy is patau’s
13
what genetic pattern is fragile X dominant
x linked dominant
what ae the signs for fragile X syndrome
*Intellectual disability
*Most frequent single genetic cause of autistic spectrum disorder
*Long faces
*Large ears
*Hypermobile joints
*More severe phenotype in males
what mutation is myotonic dystrophy
dystrophy of protein kinase (DMPK) located on chromosome 19
what genetic pattern is myotonic dysfunction
autosomnal dominant
what amino acid is repeated in myotonic dystrophy
CTG triplet
what gene is fragile x syndrome
FMR1
3 Condtiotions where genetic anticipation seen
*Huntington’s disease
*Juvenile myoclonic epilepsy
*Friedreich’s ataxia
aside from AS+PWS, name 2 conditions where imprinting goes wrong and describe
1.Beckwith - Wiedemann syndrome
- Overgrowth syndrome accompanied by an increased predisposition to cancer - large tongue, omphalocele (abdominal wall defect), hemihyperplasia (asymmetrical overgrowth), Wilms tumour and hepatoblastoma
2.Silver - Russell syndrome
-Clinically heterogeneous characterised by growth retardation (small for gestational age), proportionate short stature, body asymmetry, small, triangular-shaped face and prominent forehead
2 examples of conditions fo mitochondial mutations
- leber hereditary optic neuropathy- rapid loss of vision due to optic nerve death
- myoclonic epilepsy w ragged fibre syndrome (MERRF) - epilepsy, dementia, ataxia, myopathy
4 examples of genetic anticipation diseases
*myotonic dystrophy
*Huntington’s disease
*Juvenile myoclonic epilepsy
*Friedreich’s ataxia
* a phenomenon in which the signs and symptoms of genetic conditions become more severe and/or appear at an earlier age, as they are passed from one generation to the next
what gene is affected myotonic dystrophy
DMPK1
what is heteroplasmy
when some mitochondria have a mutation some don’t
or presence of more than one mtDNA type in an individual
what causes charcot marie tooth
single nucleotide polymorphism
what causes dejerine-sottas syndrome
Single nucleotide polymorphism
what genetic pattern is oustiogenesis imperfecta
autosomnal dominant
what a.a subs in sickle cell anemia
glutamic acid substitutes valine beta haemoglbin chain position 5
