investigation of dysmorphic child and developmental delay Flashcards

1
Q

CHARGE syndrome

A
de novo mutation CHD7 gene
Coloboma of the eye
Heart defects
Atresia of choanae
Retardation growth and development
Genital and urinary tract abnormalities
Ear abnormalities and hearing loss
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2
Q

dysmorphic features

A

single features alone are fairly common in the general population. e.g epicanthic folds, or a single palmar crease
it is only in combination that these features begin to point towards a syndrome

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3
Q

turner’s

A

can be a result of many chromosome abnormalities
45, X - 98% end in miscarriage
75% caused by the loss of the X or Y in paternal meiosis

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4
Q

turner’s

A

can be a result of many chromosome abnormalities
45, X - 98% end in miscarriage
75% caused by the loss of the X or Y in paternal meiosis

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5
Q

unbalanced robertsonian translocation

A

eg in downs
trisomy 21
instead of having 3 separate chromosome 21, the 3rd may be translocated and ‘stuck’ onto the end of another chromosome eg on chromosome 14

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6
Q

unbalanced robertsonian translocation

A

eg in 2% of all downs syndrome
trisomy 21
instead of having 3 separate chromosome 21, the 3rd may be translocated and ‘stuck’ onto the end of another chromosome eg on chromosome 14

if the mother has a balanced robertsonian translocation, and has 2 chromosome 21, but one is stuck on the end of chromosome 14, she can pass on 2 chromosome 21 (one alone, one with 14) leading to trisomy

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7
Q

klinefelters

A

affects males only
XXY
small testes and subsequent low levels of testosterone
lack of development of male sexual characteristics and possible development of breast tissue
Tx: testosterone replacement

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8
Q

XXX syndrome

A
affects females
taller
usually learning disability
decreased muscle tone
seizures
renal problems
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