Perinciple conditions Flashcards by Mehnoor Azhar

*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

How well did you know this?

Not at all

Perfectly

*Bicuspid aortic valve
*Coarctation of aorta

turner’s syndrome

How well did you know this?

Not at all

Perfectly

45X/45XO

turner’s syndrome

How well did you know this?

Not at all

Perfectly

only 1 x from mum absence y from dad

turner’s syndrome

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

septal defects, PDA

edward syndrome

How well did you know this?

Not at all

Perfectly

horseshoe kidney

edward syndrome

How well did you know this?

Not at all

Perfectly

*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

How well did you know this?

Not at all

Perfectly

non disjunction at birth causing XXY

klinefelter’s syndome

How well did you know this?

Not at all

Perfectly

autosomnal means

non sex

How well did you know this?

Not at all

Perfectly

*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

How well did you know this?

Not at all

Perfectly

what chromosome is down’s

How well did you know this?

Not at all

Perfectly

*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

How well did you know this?

Not at all

Perfectly

turner’s syndome

How well did you know this?

Not at all

Perfectly

45X/45XO

turner’s syndrome

How well did you know this?

Not at all

Perfectly

only 1 x from mum absence y from dad

turner’s syndrome

what chromosome is edwards

chromosome 18

what trisonomy is patau’s

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

3. 1. leber hereditary optic neuropathy- rapid loss of vision due to optic nerve death 2. 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