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Thompson and Thompson > Chap: 6 the chomosomal and genomic basis of disease > Flashcards

Chap: 6 the chomosomal and genomic basis of disease Flashcards

1
Q

two chromosomes inherited from two identical sister chromatids

A

isodisomy

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2
Q

both homologues from both parents are present

A

heterodisomy

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3
Q

Heterodisomy indicates what type or error?

A

meiosis I error

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4
Q

Isodisomy indicates what type of error?

A

meiosis II error

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5
Q

Proximal iUPD (with crossing over) results from what type of error?

A

meiosis II error

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6
Q

Distal iUPD (with crossing over) results from what type of error?

A

meiosis I error

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7
Q

occurs from misalignment of and subsequent recombination between the flanking segmental duplications

A

non-allelic homologous recombination

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8
Q

7q11.23 deletion

A

Williams syndrome

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9
Q

15q11-13 deletion

A

Prader-Willi/Angelman Syndrome

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10
Q

Autism/DD

recurrent microdeletion syndrome

Macrocephaly is common

chiari malformation and cerebellar ectopia most frequent brain abnormalities

vertebral anomalies most common birth defect

A

16p11.2 deletion

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11
Q

17p11.2 deletion

A

Smith-Magenis Syndrome

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12
Q

feeding difficulties- infamts

prolonged napping-infants

upper body squeeze/hug

A

17q11.2 deletion

Smith-Magenis

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13
Q

Smith-Magenis Syndrome can also result from intrageneic pathogenic variants in

A

RAI1

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14
Q

Potlocki-Lupski Syndrome

A

17p11.2 duplication

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15
Q
  • preauricular pits and/or tag
  • anal atresia,
  • iris coloboma
  • heart defects
  • renal anomalies
A

Cat-eye-Syndrome

CES is usually associated with a supernumerary bisatellited marker chromosome containing material of chromosome 22 (idic(22)(pter→q11.2::q11.2→pter)), which results in partial tetrasomy 22.

22q11.2 duplication

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16
Q

3.5Mb deletion

Y chromosome

Oligozoospermia/Azoospermia/Infertility

17
Q

true/False: Most cases of cri du chat are sporatic

A

True

5p deletion

breakpoints are highly variable

18
Q

inv(9)(p11q12)

A

considered a normal variant

does not appear to have signifigant risk for miscarriage or unbalanced offspring

19
Q

inv(3)(p25q21)

A

carriers are normal

offspring with 3q21 duplication and 3p25 deletion = abnormal phenotype

offspring with opposite not viable.

40% eprirical risk of abnormal pregnancy outcome for carriers

20
Q

absence of paternally derived 15q11-q13

A

Prader-Willi Syndrome

infancy feeding difficalties

childhood hyperphagia and obesity

hypotonia

cognitive impairment

short stature

dysmorphism

21
Q

hypermethylation of one copy of SNRPN

A

Prader-Willi syndrome

22
Q

NIPTs noted for trisomy 15

Amniocentesis chromosomal analysis is normal

What condition would you be concerned about?

A

Prader-Willi syndrome

Maternal uniparental disomy via trisomy rescue

Loss of paternal chromosome 15 from conceptus with chromosome 15 trisomy secondary to maternal nondisjunction (meiosis II non-disjunction)

23
Q

which molecular case of Prader-Willi has the highest recurrance risk?

A

Imprinting center defects: as high as 50%

deletion and maternal UDP about 1%

parents with balanced translocation: up to 25%

24
Q

Majority of case of Beckwith-Weidmann Syndrome are secondary to what molecular defect

A

Loss of maternal methylation of IC 2: 50%

paternal UPD for 11p15: 20%

Gain of methylation in maternal IC 1: 5%

heterozygous maternally inherited variant: CDKN1C: 40% familial cases; 5-10 % in cases with no family history

25
Q

Maternally inherited mutations in ____ account for about ____% of patients with Angelman Syndrome

26
Q

genetic recombination occuring outside the _______ of the sex chromosome. Result in XX males and XY females

A

pseudoautosomal regions

27
Q

which of the following chromosomal inbalances may have greater clinical signifigance

imbalances on Xp or imbalances in Xq

A

many more genes “escape” inactivation on distal Xp (as many as 50%) than on Xq (just a few percent)

imbalance for genes on Xp may have greater clinical significance than imbalance for genes on Xq, where the effect is largely mitigated by X inactivation

28
Q

most females with a XY karyotype have a normal ____ gene.

29
Q

The DAX1 gene found on Xp21.3 is a transcription factor that has a ____________ role in gonadal sex development

A

dosage-sensative

duplications of DAX1 supresses the function of SRY leading to failure of testicular development; leading to ovarian development

30
Q

SOX9 mutations found on chromosome 17 are associated with this skeletal malformation, leading to complete gonadal dysgenesis.

A

camptomelic dysplasia

46,XY

Thompson and Thompson (9 decks)

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