Down Syndrome and Other Abnormalities of Chromosome Number Flashcards

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1
Q

Abnormal cells that do not contain a multiple of haploid number of chromosomes

A

Aneuploid cells

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2
Q

Most common and clinically significant type of human chromosome abnormality

A

Aneuploidy

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3
Q

MC cause of aneuploidy

A

Nondisjunction

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4
Q

Characeterized by the presence of 3 chromosomes

A

Trisomy

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5
Q

MC form of aneuploidy

A

Trisomy

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6
Q

Technique used for rapid diagnosis in the prenatal detection of common fetal aneuploidies

A

FISH

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7
Q

MC numerical abnormalities in live born children (3)

A

1) T21 Down’s 2) T18 Edwards 3) T13 Patau

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8
Q

MC type of trisomy in liveborn infants

A

Trisomy 21

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9
Q

T/F The occurrence of Trisomy 21 and other trisomies increased with advanced age

A

T

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10
Q

Age at which occurrence of Trisomy increases

A

> 35 y/o

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11
Q

___% of spontaneous abortuses have chromosomal abnormalities

A

50%

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12
Q

MC chromosomal abnormality in abortuses

A

45,X (Turner)

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13
Q

___% of 45,X are foetuses are spontaneously aborted

A

99

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14
Q

Features in NB and children that suggest the presence of a chromosome anomaly

A

1) LBW/SGA 2) Failure to thrive 3) Developmental delay 4) 3 or more congenital malformations

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15
Q

MC genetic cause of moderate mental retardation

A

Down syndrome

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16
Q

T/F Individuals affected with Down syndrome are more prone to CHD

A

T

17
Q

A complication of Down syndrome that occurs as early as the 4th decade

A

Alzheimer disease-like dementia

18
Q

T/F Developmental delay is universal in individuals with Down syndrome

A

T

19
Q

Area of development that is relatively spared in Down syndrome

A

Social development

20
Q

All women should be offered screening for Down syndrome when

A

2nd trimester

21
Q

Maternal serum tests used to screen Down Syndrome (4)

A

1) Free beta HCG 2) Unconjugated estriol 3) Inhibin 4) alpha fetoprotein

22
Q

The origin of supernumerary chrome 21 in children with Down syndrome is

A

Maternal (97%)

23
Q

Fusions in Down syndrome, found at the centromere between chromosomes 13, 14, 15, 21, and 22

A

Robertsonian translocations

24
Q

MC abnormality of chromosomal number

A

Trisomy 21

25
Q

Nondysjunctional event in Down syndrome pregnancy occurs during

A

Maternal meiosis phase I

26
Q

T/F In approx 95% of cases of Down Syndrome, there are 3 copies of chromosome 21

A

T