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Paediatrics Genetics Flashcards

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1
Q

Where and on what is the genetic code located?

A

In the nucleus of every cell within a long string of nucleotides on a molecule called deoxyribonucleic acid (DNA)

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2
Q

How many chromosomes do we have and where are they?

A

23 chromosome pairs or 46 chromosomes in total

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3
Q

What are the sex chromosomes?

A

X chromosome and Y chromosome (males have X and Y and females have two X chromosomes)

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4
Q

What are the ‘other chromosomes’ called?

A

Autosomes (non-sex chromosomes)

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5
Q

What is the genotype and phenotype respectively?

A
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6
Q

What is the process of creating a gamete (egg or sperm) called?

A

Meiosis

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7
Q

How do the genes for Huntington’s Chorea and Cystic Fibrosis differ?

A

HC = dominant

CF = recessive

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8
Q

What are the possible chromosome disorders?

A

Deletion

Duplication

Mosaicism

Translocation

Trisomy

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9
Q

What is a deletion disorder?

A

Portion of a chromosome is missing (very rare)

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10
Q

What is an example of a deletion disorder?

A

Cri du chat caused by a missing portion of chromosome 5

Patients have learning, developmental and speech and language difficulties and characteristic “cat like cry”

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11
Q

Give an example of a duplication disorder?

A

Charcot-Marie-Tooth which can be caused by duplication of short arm of chromosome 17 - patients have sensory and motor neuropathy with characteristic pes cavus (high arching foot)

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12
Q

What are the types of translocation disorders?

A

One portion of chromosome is directly swapped with another portion

Reciprocal translocation = balanced

Nonreciprocal translocation = unbalanced

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13
Q

What can translocation disorders cause?

A

Predisposes to other conditions e.g. cancer or infertility

E.g. “philadelphia chromosome” translocation in acute myeloid lukaemia (reciprocal translocation between chromosomes 9 and 22)

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14
Q

What are Robertsonian translocations?

A

Occur in acrocentric chromosomes (13, 14, 15, 21, 22) with longer arm with most of the genetic material and short arm with little genetic information on it

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15
Q

What are the 3 trisomys?

A

Trisomy 13 = Patau syndrome (varies in severity) - learning disability, polydactylyl, microcephaly, cleft lip

Trisomy 18 = Edwards syndrome (varies in severity) - LD, micrognathia, overlapping of fingers, rocker bottom feet

Trisomy 21 = Down’s syndrome (most common)

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16
Q

What is mosaicism?

A

Scenario where the chromosomal abnormality happens after conception in a portion of cells in body and not in others - each is unique and effects are unpredictable

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17
Q

What are mitochondria?

A
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18
Q

What is mitochondrial inheritance?

A

At time of conception the sperm carrying the fathers genetic material enters the egg and the DNA in the nucleus of both cells combine.

All the mitochondria in this comes from mother at mitochondria in sperm is in tail which doesn’t enter the egg

Called maternal inheritance

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19
Q

What is diagnosis testing?

A

Testing a fetus or a person for a suspected genetic condition

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20
Q

Give an example of diagnostic testing?

A

Test fetus for a genetic condition via amniocentesis e.g. Down’s syndrome

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21
Q

What is predictive testing give an example?

A

Testing a person for a gene mutation e.g. BRAC1 breast cancer gene or gene for Huntington’s chorea

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22
Q

What is carrier testing, give an example?

A

Testing parent / potential parent for specific autosomal recessive condition e.g. cystic fibrosis gene

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23
Q

What are some other specific tests?

A

Genealogical testing

Forensic testing

Paternity testing

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24
Q

What are the ethical issues surrounding genetic testing?

A

Get consent

Give genetic counselling before and discuss implications

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25
What is **karyotyping**?
Looking at **number of chromosome** - size and basic structure - helpful in diagnosing **Down's syndrome** (trisomy 21) and **Turner syndrome** (45XO)
26
What is **microassay testing**?
27
When is **microassay testing** used?
**Screening** for chromosomal abnormalities and common genetic conditions Looking for **mutations** in **cancer cells** and for **research** aimed at matching **genes with phenotypes**
28
What is **specific gene testing**?
29
What is **DNA sequencing**?
For **research only** - split the two strands of DNA and watch as individual **nucleotides** are added to a **single strand of DNA** - ultimately revealing the exact sequence
30
What are the **dysmorphic features** of **Down's syndrome**?
**Hypotonia** (reduced muscle tone) **Brachycephaly** (small head with a flat back) **Short neck** **Short stature** **Flattened face and nose** **Prominent epicanthic** folds **Upward** sloping **palpable fissures** **Single palmar** crease
31
What are the **complications** of **Down's syndrome**?
**Learning disability** **Recurrent otitis media** **Deafness. Eustachian tube** abnormalities lead to glue ear and conductive hearing loss. **Visual problems** such myopia, strabismus and cataracts **Hypothyroidism** occurs in 10 – 20% **Cardiac defects** affect 1 in 3, particularly **ASD, VSD**, **patent ductus arteriosus** and **tetralogy of Fallot** Atlantoaxial **instability** **Leukaemia** is more common in children with Down’s **Dementia** is more common in adults with Down’s
32
What is the **combined test**?
Between 11-14 weeks Maternal bloods (b-HCG and PAPPA - high and low indicate greater risk) US (Nuchal thickness \> 6mm indicates greater risk)
33
What is the **triple test**?
Between 14-20 weeks **Maternal blood tests only**: * b-HCG (higher) * AFP (lower) * Serum oestriol (lower)
34
What is the **quadruple test**?
Performed between **14 and 20 weeks** - identical to triple by includes maternal blood test for **inhibin-A** (if higher then indicates a greater risk)
35
What if the **risk score** for Down's syndrome is greater than 1 in 150?
Offer **amniocentesis** or **chorionic villus sampling** - take a sample of fetal cells for **karyotyping**
36
How is **chorionic villus sampling** (CVS) performed?
Ultrasound guided biopsy of the placental tissue (done **before 15 weeks**)
37
How is **amniocentesis** performed?
Ultrasound guided aspiration of some amniotic fluid using a **needle and syringe** - done later in pregnancy when there is enough amniotic fluid to make it safer to take a sample
38
What is **non-invasive prenatal testing** (NIPT)
Maternal blood testing for **fragments of fetal DNA** - alternative to CVS/amniocentesis
39
What is the **management of Down's syndrome**?
By **MDT**: * OT * SALT * Physio * Dietician * Paediatricians * Cardiologists * ENT * Charities **e.g. Down's syndrome association**
40
What are the **follow up investigations** for Down's syndrome?
- **Regular thyroid checks** (2 yearly) - **Echocardiogram** to diagnose cardiac defects - **Regular audiometry** for hearing impairment - Regular **eye checks**
41
What is the **life expectancy** for Down's syndrome?
60 years
42
What is **Klinefelters syndrome**?
**Male** has an **additional X chromosome** = 47 XXY (may have more Xs)
43
What are the **features** of **Kleinfelter syndrome**?
Appear as **normal males** until puberty, then: **Taller** height **Wider hips** **Gynaecomastia** **Weaker** muscles **Small testicles** **Reduced libido** **Shyness** **Infertility** Subtle **learning difficulties** (particularly affecting speech and language)
44
What is the management for **Kleinfelter syndrome**?
No way to treat underlying genetic cause, treatment for **features**: - **Testosterone injections** improve many of the symptoms - **Advanced IVF techniques** have potential to allow fertility - **Breast reduction surgery** for cosmetic purposes - **Speech and language therapy** - **OT** for help with everyday tasks - **Physio** to strengthen muscles and joints - **Educational support** required for **dyslexia** and other learning difficulties
45
What is the **life expectancy** with **Kleinfelters**?
Close to normal
46
What is **Turner's syndrome**?
Female has a **single X chromosome** making them 45 XO (life expectancy is close to normal)
47
What are the features of **Turner's syndrome**?
**Short** stature **Webbed** neck **High arching** palate **Downward sloping eyes** with ptosis Broad chest with **widely spaced nipples** **Cubitus valgus** **Underdeveloped ovaries** with reduced function **Late or incomplete puberty** **Most** women are **infertile**
48
What conditions are **associated with Turner's** syndrome?
Recurrent **otitis media** Recurrent **urinary tract infections** **Coarctation** of the aorta **Hypothyroidism** **Hypertension** **Obesity** **Diabetes** **Osteoporosis** **Various specific learning disabilities**
49
What is the **management** of **Turner's syndrome**?
Help with **symptoms of condition** **Growth hormone therapy** to **prevent short stature** **Oestrogen** and **progesterone** replacement to develop female secondary sex characteristics, regulate menstrual cycle and prevent osteoporosis **Fertility treatment** to increase chances of becoming pregnant
50
What is **Noonan syndrome?**
**Genetic condition** - number of different genes which cause it Majority of cases are inherited in an **autosomal dominant** way
51
What are the features of **Noonan syndrome**?
**Webbed neck Pectus excavatum Short stature Pulmonary stenosis**
52
What conditions are **associated with Noonan syndrome**?
**CVD** (pulmonary valve stenosis, ASD) **Cryptorchidism** (undescended testes) **LD** **Lymphoedema** Increased risk of **leukaemia** and **neuroblastoma**
53
What is the treatment for Noonan syndrome?
**Supportive** with **multidisciplinary team** - main complication is **congenital heart disease** - often requiring corrective heart surgery
54
What is **Marfan syndrome**?
**Autosomal dominant** condition affecting the gene responsible for creating **firbillin** (an important component of **connective tissue**) meaning that people with **Marfan syndrome** have features resulting from **abnormal connective tissue**
55
What are the features of **Marfan syndrome**?
**Tall stature** **Long neck** **Long limbs** Long fingers (**arachnodactyly**) **High arch palate** **Hypermobility** **Pectus carinatum** or **pectus excavatum** **Downward** sloping **palpable fissures**
56
What are the **two tests** for **arachnodactyly**?
Cross **their thumb across their palm** (if tip goes over then arach) Wrap finger and thumb around other wrist (if overlap then arach)
57
What **conditions** are **associated with Marfans**?
Lens dislocation Joint dislocation Scoliosis of the spine Pneumothorax GORD Aortic aneurym
58
What is the **management of Marfan's**?
Greatest risk = **cardiac complications** (valve prolapse and aortic aneurysms) - surgical correction Manage risk = avoid intense exercise, caffeine, BBs, A2RB Pregnancy = risk of aortic aneurysm **Physio** Yearly **echo** and **ophthalmology**
59
What monitoring do patients with Marfan's require?
Yearly **echocardiograms** and review by an **ophthalmologist**
60
What is **fragile X syndrome** caused by?
Mutation in FMR1 (fragile X mental retardation 1 gene) - plays a role in **cognitive development** of the **brain**
61
What is the **pattern of inheritance** of **fragile X syndrome**?
**X-linked** unclear if dominant or recessive - males are always affected but females affected to a varying level
62
What are the **features** of **fragile X syndrome**?
Presents with a **delay in speech and language development**, along with: * **Learning difficulties Macrocephaly Long face Large ears Macro-orchidism**
63
What is the management of fragile X syndrome?
Supportive, multi-disciplinary team to support: - Learning disability - Autism - ADHD - Seizures **Life expectancy** is **similar to general population**
64
What is **Prada-Willi syndrome**?
Loss of functional genes on the proximal arm of the **chromosome 15** inherited from the father
65
What are the features of **Prada-Willi syndrome**?
Hypotonia Hypogonadism Obesity
66
What is the treatment of **Prada-Willi syndrome**?
**No cure** - carefully limit access to food (locking food in cupboards, putting lock on the fridge, controlling access to rubbish bins) **Growth hormone** - improves muscle development and body composition
67
Who is involved in the **management** of **Prada-Willi** syndrome?
- **Dieticians** play in important role - Educational support - Social workers - Psychologists - Physiotherapists - OTs
68
What is **Angelman syndrome**?
Loss of function of UBE3A gene on chromosome 15
69
What are the features of **Angelman syndrome**?
Delayed development and **learning disability** Severe **delay** or **absence of speech development** Ataxia **Fascination with water** **Happy demeanour** Inappropriate **laughter** Hand **flapping** Abnormal sleep patterns Epilepsy Attention-deficit hyperactivity disorder Dysmorphic features Microcephaly Fair skin, light hair and blue eyes **Wide mouth with widely spaced teeth**
70
Who is involved in the management of Angelman syndrome?
**Parental education** **Social services** and support **Educational support** **Physiotherapy** **Occupational therapy** **Psychology** **CAMHS** **Anti-epileptic medication** where required
71
What is **William syndrome** caused by?
**Deletion** of genetic material on one copy of chromosome **7** Usually the result of a **random deletion** around conception
72
What are the **features** of **William syndrome**?
**Short stature Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis**
73
What **conditions** are **associated** with **William syndrome**?
**Supravalvular aortic stenosis** **Hypercalcaemia** ADHD HTN
74
What is the **management** of **William syndrome**?
**Echos** and bp monitors to assess for **aortic stenosis** and **hypertension** **Low calcium diet** required to control **hypercalcaemia** Avoid calcium and vit D supplements

Paediatrics (18 decks)

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