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Other chromosomal abnormalities (Edward's syndrome…
Other
chromosomal
abnormalities
Edward's syndrome
Pathophysiology
Non-disjunction at meiosis; 3x Chr18 into one cell
Risk factors
Maternal age
Epidemiology
2nd commonest Chr disorder (after Down's)
1/6000 live births
Prognosis
Most die soon after birth
Definition
Trisomy of chromosome 18
Clinical features
Craniofacial abnormalities (small features, low ears)
Rocker bottom feet
Cardiac abnormalities (often VSD)
Gastrointestinal abnormalities
Urogenital abnormalities
Patau's syndrome
Risk factors
Maternal age
Clinical presentation
Craniofacial (microcephaly, cyclopia)
Cleft lip and palate (midline)
Holoprosencephaly (failed cleavage of forebrain)
Gastrointestinal abnormalities
Pathophysiology
Non-disjunction at meiosis; 3x Ch13
Disruption of midline structures
Epidemiology
Rare; 1/10,000 live births
Prognosis
Death soon after birth
Definition
Trisomy chromosome 13
Turner's syndrome
Epidemiology
Females only
1/2500 live female births
Clinical presentation
Short stature
Webbed neck
Wide carrying angle
Infertility
Coarctation of the aorta
Pathophysiology
Loss of an X chromosome
Ovaries do not develop - primary amenorrhoea
Prognosis
No mental impairment
Definition
Chr disorder of single X Chr (XO)
Kleinfelter's syndrome
Pathophysiology
Non-disjunction of X Chr (XXY)
Clinical presentation
Infertility
Hypogonadism
Tall stature
Reduced IQ (sometimes)
Epidemiology
1/700 live male births
Definition
Triploidy sex Chr (XXY)