Chromosomal Abnormalities Flashcards
Which disease is caused by trisomy 18?
Edward’s syndrome
Give 5 features of Edward’s syndrome.
- Microcephaly
- Low set ears
- Small chin
- Overlapping fingers
- Rocker bottom feet
Which cardiac problems are associated with Edward’s syndrome?
VSD
ASD
PDA
Which disease is caused by trisomy 13?
Patau’s syndrome
Give 6 features of Patau’s syndrome.
- Holoprosencephaly
- Structural eye defects
- Polydactyly
- Cutis aplasia (skin defects)
- Cardiac defects
- Renal defects
What is the karyotype that causes Turner’s syndrome?
45XO
Which heart problem is associated with Turner’s syndrome?
Coarctation of aorta.
Which facial features are associated with Turner’s syndrome?
Downward-turned mouth
Downward slanting palpebral fissures
Small chin
Which sex are patients with Turner’s syndrome?
Female
Give 6 features (not-facial) of people with Turner’s syndrome.
Webbed neck Short stature Wide spaced nipples Lymphodema Streak gonads Lack of secondary sexual development
Which syndrome does an XXY karyotype lead to?
Klinefelter’s syndrome.
Give 5 features of Klinefelter’s syndrome.
- Infertility
- Hypogonadism, microorchidism
- Gynaecomastia
4 Tall stature - Intelligence from normal to moderate learning difficulties
Give 3 behavioural characteristics of people with fragile X syndrome.
Autistic behaviours
Hand flapping
ADD
Give 3 facial features of somebody with fragile X syndrome.
Long face
Prominent ears
Large chin
In which chromosomal abnormality are the following common features?:
Learning difficulties
Macroorchidism
Connective tissue problems such as flat feet, and hyperflexible joints
Fragile X syndrome
Which symptoms of Prader Willi Syndrome are evident at birth?
Hypotonia
Feeding problems
Hypogonadism
Which 6 symptoms of Prader Willi syndrome may be noticeable later on (after birth).
Failure to thrive Scoliosis Hyperphagia Obesity Development delay/learning difficulties
What is the physical appearance of somebody with Prader Willi Syndrome?
Almond shaped eyes Pale skin Light hair Small hands and feet Hypogonadism
What are the facial features of somebody with Noonan’s syndrome?
Hypertelorism (eyes wide apart)
Triangular face
Show webbed neck
Low set ears
In which syndrome can a patient be described as having cocktail party conversation?
William’s syndrome
What is the facial appearance of somebody with William’s syndrome?
Flat nasal bridge Small upturned nose Prominent lips and open mouth Widely spaced teeth Long philtrum
Give 3 features (not facial) of somebody with William’s syndrome.
Mild to moderate learning difficulty
Cardiac defects e.g. supravalvular aortic stenosis
Transient hypercalcaemia in infancy
What is the chromosome abnormality in DiGeorge syndrome?
Chromosome 22 deletion.
Which cardiac anomalies are associated with DiGeorge syndrome?
Interrupted aortic arch
TOF
Truncus arteriosis
Other than cardiac anomalies, give 4 signs of DiGeorge syndrome.
- Abnormal faces
- Thymic aplasia
- Clef palate
- Hypocalcaemia
What does TORCH stand for?
Toxoplasmosis Other (e.g. syphilis) Rubella Cytomegalovirus Herpes simplex
Name 5 features of Toxoplasmosis.
- Hydrocephalus (or microcephaly)
- Chorioretinitis.
- Cerebral calcification
- Cerebral palsy
- Epilepsy
Give 5 features of congenital cytomegalovirus infection.
Low birth weight Microcephaly Cerebral calcification Hepatosplenomegaly with jaundice Petechiae
How would you treat congenital cytomegalovirus infection?
Gangcyclovir
Which 5 things are people with congenital cytomegalovirus infection at risk of?
Hearing loss Mental retardation Psychomotor delay Cerebral palsy Impaired vision
Which two cardiac problems are patients with congenital rubella syndrome at risk of?
Pulmonary artery stenosis
Patent ductus arteriosus
Give 5 signs of congenital rubella syndrome.
- Cataracts
- Microphthalmos
- Sensorineural hearing loss
- Thrombocytopenic purpura (blueberry muffin rash)
- Hepatomegaly
Which facial features are associated with foetal alcohol syndrome?
Epicanthic folds Low nasal bridge Absent philtrum Thin upper lip Small chin
Which cardiac defects are associated with foetal alcohol syndrome?
VSD
ASD
Give 4 problems commonly associated with foetal alcohol syndrome.
Microcephaly
Growth retardation
Limb abnormalities
Learning difficulties/behavioural problems
Which congenital defects are related to the use of phenytoin in pregnancy?
Cleft lip/palate
Cardiac defects
Hypoplastic nails
Craniofacial abnormalities (foetal hydantoin syndrome)
Which congenital defects are related to the use of sodium valproate/carbamazepine during pregnancy?
Neural tube defects (1-2%)
Which congenital defects are related to the use of lithium during pregnancy?
Ebstein’s anomaly (rare heart defect)
Which 5 congenital defects are related to the use of warfarin during pregnancy?
Frontal bossing Cardiac defects Microcephaly Nasal hypoplasia Epiphyseal stippling
Which congenital defect is related to the use of tetracycline during pregnancy?
Discolouration of teeth
