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Paediatrics > Genetics > Flashcards

Genetics Flashcards

1
Q

What is congenital

A

Present at birth

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2
Q

What are the major mechanisms of congenital malformation

A

Single gene = 30%
Chromosomal
Teratogens
Environment / unknown = 55%

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3
Q

What is a syndrome

A

Pattern of clinical features occurring together which form a characteristic clinical picture

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4
Q

What is a sequence

A

One abnormality leading to another

Multiple causes

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5
Q

What is an association

A

Two features or more occurring together more often than by chance

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6
Q

What is a malformation

A

Can occur alone or part of a syndrome

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7
Q

What is a deformation / disruption

A

Pattern of development normal to start with but becomes abnormal
Organ parts still there
Disruption = organ parts absent

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8
Q

How do you Dx learning difficulty or malformation syndrome

A 
History
Recognition of pattern
Karyotype -  chromosome structure
Microarray = standard
Targetted tests - fragile X 
Exome / genome
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9
Q

What is acrocephalosyndactylyl

A

Syndactylyl - united
Polysyndactyl - extra digit
Craniosynostosis - tall head

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10
Q

What is Pierre-Robin sequence

A

Small jaw - micrognathia
Tongue obstruction
Cleft palate
= Respiratory distress

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11
Q

What is fetal akinesia sequence

A 
Reduced fetal movement
IUGR 
Contractures / abnormal position
Clefting / facial anomaly 
Pulmonary hypoplasia
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12
Q

What is VATER association

A

Vertebral anomalie
Ano rectal atresia
Tracheal Eosophageal fistula
Radial anomalies

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13
Q

How do you describe head features

A

Shape
Macrocephaly
Microcephaly

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14
Q

How do you describe ear position

A

Low set

Posteriorly rotated - immature

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15
Q

What is hypertelorism of orbit

A

Inner cantonal distance (ICD)

Inter-pupillary distance (IPD) increased

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16
Q

What is telecanthu

A

ICD increased

IPD normal

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17
Q

What is epicanthic folds

A

Fold in inner corner of eye

Important in Downs

18
Q

How do you describe the hands

A

Finger length
Digital abnormality
Palmar creases

19
Q

What occurs in the hands in marfans

A

Increased finger length

20
Q

What is Klinefelter’s syndrome

A

45 XXY

21
Q

What is Down’s and how do you Dx

A

Trisomy 21

Antenatal

  • Ante-natal screen
  • Anti-natal test if high risk
  • Non-invasive pre-natal replacing anti-natal as single blood test from mother

Birth
- Karyotype

22
Q

What are the clinical dysmorphic features of Trisomy 21

A 
Microcephaly + flat occiput
Hypotonia
Short neck
Short stature
Round face
Epicanthic folds
Upslanted palpebral fissue
Single palmar crease 
Brushfield spot
Flat nasal bride
Protrudng tongue
Small low set ears x
Third fontanelle 
Short stubby fingers
Saddle toe deformity
23
Q

What conditions are associated with trisomy 21

A 
Epilepsy
Alzheimers
Hypothyroid
Cardiac - AVSD, PDA, tetralogy 
GI - Duodenal atresia
Hirschprung
ALL 
Infertility 
Eye - cataract / myopia 
Deafness - conductive due to eustachian dysfunction 
Recurrent otitis media 
Learning difficulties 
Atlantoaxial instability - screen if sporty
24
Q

How do you manage and follow up

A

MDT

  • OT
  • SALT
  • Physio
  • Paediatrician
  • Dietician
  • GP and HV
  • Cardio, ENT, audiologist, optician
  • Social services
  • Additional support

Regular thyroid
ECHO for cardiac
Regular audiometry and eye check

25
Q

William Syndrome

A 
Short stature
LD
Hyperglycaemia
Hypercalcaemia 
Supravalvular AS / hypertension 
Mitrar regugitation 
Starburst eyes - pattern on iris
Friendly, extrovert
Wide spaced mouth with big smile 
Rx = ECHO, BP monitoring
26
Q

Rett’s

A 
X-linked
Autism
GDD
Gross motor
Microcephaly
Seizures 
Dysmorphism
27
Q

Prader-Willi and how do you Rx

A 
Hypotonia 
Hypogonadism
Obesity due to constant hunger
LD 
Rx = GH, MDT, lock food
28
Q

Patau

A 
13
Micrcephalia
Cleft lip
Polydactly
Scalp issue
VSD / ASD
LD
29
Q

Edward

A 
Trisomy 18 
Micrognathia
Low set ears
Overlapping finger
Rocker bottom feet
VSD / PDA
30
Q

Noonan

A 
AD
Webbed neck
Pectus evactum
Short stature
Cryptochordism 
Ptosis
Coagulation issues 
Pulmonary stenosis
31
Q

Most common cause of development delay and how is it inherited

A

Fragile X

X-linked

32
Q

How does it present

A 
LD, ADHD, autism 
Speech and language delay 
Large low set ears
Thin long face
Hypotonia
Macro-orchidism - big testicles
Macrocephaly
Mitral valve prolapse
Seizures
33
Q

How do you Dx

A

Chronic villi

Amniocentesis

34
Q

Achondropalsia

A 
AD in FGFR3 gene
Abnormal cartilage
Short stature usually limbs
Short finger
Macrocephaly
Frontal bossing
MIdface hypoplasia
Flat nose
Triden hands
Lumbar lordosis
Otitis media
Obesity, OSA
Spinal stenosis leading to cord compression
35
Q

How do you Rx

A

Limb lengthening

36
Q

X-linked restive genes

A

Female = carrier

Male can’t get from dad as he will always give Y

37
Q

What causes microcephaly

A 
Normal
Genetic
Congenital
HIE / brain injury
FAS
Syndromes
Craniocyntosis
38
Q

What is Turner’s

A

Female has a single X chromosome so 45X
Affects female
Can develop X-linked conditions

39
Q

What are features

A 
Short stature
Webbed neck 
Widely spaced nipple 
Low set ears 
Late or incomplete puberty
Most are infertile
40
Q

What is associated

A 
Co-arctation of aorta 
Aortic stenosis 
Hypothyroid
Obesity 
Hypertension 
Osteoporosis 
DM
LD
Horseshoe kidney 
Autoimmune - chron's / thyroid 
Pectus deformity
41
Q

How do you Rx

A

GH therapy
Oestrogen and progesterone for 2 characteristic
Fertility Rx

42
Q

What is DiGeorge

A

Chromosome 22 - CATCH 22

  • Cardiac
  • Abnormal face / Autoimmune - JIA/. ITP / anaemia
  • Thymic hypoplasia
  • Cleft palate
  • HypoCaclium / Hypoparathyroid

Other
LD
Schizophrenia

Paediatrics (35 decks)

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