Genetic Counseling: Down & Turner Syndromes

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Key counseling concepts

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Mahesh

India

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Genetic Counseling: Down & Turner Syndromes


Genetic Counseling: Down & Turner SyndromesVersión en línea Key counseling concepts por Mahesh 1 What is the common chromosomal abnormality in classic Down syndrome? a Trisomy 18 b Turner syndrome (45,X) c Monosomy 21 d Trisomy 21 2 Turner syndrome most often results from which chromosomal pattern? a 46,XY mosaicism b 47,XXX c 45,X (monosomy X) d 46,XX triplication 3 What is the most important counseling point about recurrence risk for Down syndrome due to nondisjunction? a Equal to general population b Very high due to parental carrier c Very low recurrence risk in a subsequent pregnancy d High if mother is over 35 4 Which test is commonly offered for prenatal detection of Down syndrome early in pregnancy? a First-trimester screening (nuchal translucency + markers) b Fetal ultrasound is definitive c Maternal blood glucose test d Amniocentesis only in third trimester 5 In Turner syndrome, spontaneous pregnancies are: a Possible but rare in mosaic cases b Common in all 45,X cases c Always results in normal fertility d Impossible at all ages 6 Which feature is a typical psychosocial counseling topic for Turner syndrome? a Diet-only lifestyle changes b No interventions needed c Hearing loss management d Fertility options and growth expectations 7 For Down syndrome, how does parental age influence risk? a Age guarantees recurrence b Age increases nondisjunction risk but not recurrence c Age lowers risk of nondisjunction d Age has no effect on risk 8 Which chromosomal mechanism can cause Turner syndrome besides 45,X? a Trisomy 21 in all cells b Duplication of chromosome 18 c Mosaicism (some cells 46,XX or 46,XY) d Translocation to chromosome 15 9 What is a common congenital heart issue in Down syndrome requiring counseling? a No cardiac issues in typical cases b Tetralogy of Fallot exclusively c Atrioventricular septal defect (AVSD) d Pulmonary stenosis only 10 What is the role of genetic counseling in outcome expectations for Down syndrome? a Promote abortion in all cases b Provide medical diagnosis only c Ignore family values and beliefs d Provide realistic prognosis and resources

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Genetic Counseling: Down & Turner Syndromes

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Genetic Counseling: Down & Turner SyndromesVersión en línea

por Mahesh

What is the common chromosomal abnormality in classic Down syndrome?

Turner syndrome most often results from which chromosomal pattern?

What is the most important counseling point about recurrence risk for Down syndrome due to nondisjunction?

Which test is commonly offered for prenatal detection of Down syndrome early in pregnancy?

In Turner syndrome, spontaneous pregnancies are:

Which feature is a typical psychosocial counseling topic for Turner syndrome?

For Down syndrome, how does parental age influence risk?

Which chromosomal mechanism can cause Turner syndrome besides 45,X?

What is a common congenital heart issue in Down syndrome requiring counseling?

What is the role of genetic counseling in outcome expectations for Down syndrome?