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ABGC > General genetics / metabolic 1 > Flashcards

General genetics / metabolic 1 Flashcards

1
Q

Hemochromatosis
features
gene(s)
inheritance

A
  • iron overload
  • fatigue, arthralgia, abdominal pain
  • HFE gene
  • AR inheritance
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2
Q

OTC
features
gene(s)
inheritance

A

OTC=ornithine transcarbamylase deficiency

  • neonatal hyperammonemia, coma
  • OTC gene
  • XL inheritance
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3
Q

47,XXX
features
cause

A
  • tall w/no abnormal phenotype; usually fertile; higher incidence of low IQ and learning problems
  • effect of increased maternal age; most result from error in maternal meiosis I
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4
Q

47,XYY
features
cause

A
  • no abnormal phenotype; normal fertility; tall; increased risk for ADHD & impulsiveness
  • YY sperm from paternal nondisjunction at meiosis II
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5
Q

Down syndrome

features

A

-dysmorphic features; hypotonia; ID; 1/2 w/CHD

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6
Q

Klinefelter syndrome

features

A
  • tall/thin; hypogonadism at puberty & underdeveloped secondary sex characteristics
  • effect of increased maternal age
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7
Q

Trisomy 13

features

A

-growth retardation; severe ID; severe CNS malformations; cleft lip and palate; ocular abnormalities; polydactyly; clenched fists; rocker-bottom feet

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8
Q

Trisomy 18

features

A

-FTT; severe MR; heart malformations; clenched fists; rocker-bottom feet

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9
Q

Pallister-Killian syndrome
features
gene(s)
inheritance

A
  • hypotonia; ID; dysmorphic features; sparse hair & skin findings
  • isochromosome 12p
  • mosaic; not inherited
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10
Q

Turner syndrome
features
gene(s)
inheritance

A
  • short stature; ovarian dysgenesis; few undergo puberty; cystic hygroma; cardiac & renal anomalies; sensorineural hearing deficit
  • 45,X (may be mosaic)
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11
Q

Ehlers-Danlos syndrome
features
gene(s)
inheritance

A
  • skin hyperextensibility, abnormal wound healing, joint hypermobility
  • half have mutation in COL5A1 or COL5A2 genes
  • AD inhertiance
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12
Q

Loeys-Dietz syndrome
features
gene(s)
inheritence

A
  • vascular findings, skeletal manifestations, some with craniofacial manifestations; mean age of death: 26y
  • TGFBR1, TGFBR2, SMAD3, TGFB2 genes
  • AD inheritance
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13
Q

Marfan syndrome
features
gene(s)
inheritance

A
  • tall stature; skeletal, ocular, cardiovascular, pulmonary, skin, dural abnormalities
  • FBN1 gene
  • AD inheritance
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14
Q

Achondroplasia
features
gene(s)
inheritance

A
  • short stature; megalencephaly; spinal cord compression; midface hypoplalsia w/prominent forehead
  • FGFR3 gene
  • AD inheritance
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15
Q

FGFR3 gene mutations

A
  • achondroplasia caused by gain-of-function mutations

- 2 mutations both resulting in Gly380Arg account for >99% of cases

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16
Q

CHARGE syndrome
features
gene(s)
inheritance

A 
C: coloboma
H: heart defects
A: atresia of the choanae
R: retardation of growth/development
G: genital abnormalities
E: ear anomalies
-CHD7 gene
-AD inheritance
17
Q

Tay-Sachs disease
features
gene(s)
inheritance

A
  • regression of motor skills, loss of vision, seizures
  • HEXA gene
  • AR inheritance
18
Q

Alzheimer’s disease
features
gene(s)
inheritance

A
  • middle to late adulthood onset of progressive dementia
  • early-onset genes: APP, PSEN1, PSEN2
  • late-onset: no mendelian causes identified, but APOE gene e4 allele associated w/disease
19
Q

Becker muscular dystrophy
features
gene(s)
inheritance

A
  • muscle weakness; cardiac involvement
  • DMD gene
  • XL inheritance
20
Q

Duchenne muscular dystrophy
features
gene(s)
inheritance

A
  • motor delays; muscle weakness; cardiac involvement (also in female carriers)
  • DMD gene
  • XL inheritance
21
Q

Rett syndrome
features
gene(s)
inheritance

A
  • normal prenatal/neonatal growth/development; rapid onset of neurological symptoms and loss of milestones 6-18 months; wringing and flapping movements of hands and arms
  • MECP2 gene
  • XL (lethal in hemizygous males)
22
Q

Neurofibromatosis
features
gene(s)
inheritance

A
  • neurological, musculoskeletal, opthalmological, skin abnormalities
  • NF1 gene
  • AD inheritance
23
Q

Xeroderma pigmentosum
features
gene(s)
inheritance

A
  • sun sensitivity; ocular involvement; risk of skin and eye neoplasms
  • XPA, XPC, ERCC2, POLH genes
  • AR inheritance
24
Q

Beckwith-Wiedemann syndrome
features
gene(s)

A
  • macroglossia; macrosomia; AWDs; hemihyperplasia; embryonal tumors; normal intelligence
  • 11p15.5 mom is silenced OR CDKN1C gene mutations
25
Q

Russell-Silver syndrome
features
gene(s)

A
  • triangular facies; growth retardation w/normal head circumference; DD/ID
  • 11p15.5 dad is silenced; or chromosome 7
26
Q

Prader-Willi syndrome
features
gene(s)

A
  • infancy: hypotonia, feeding difficulties; DD
  • childhood: overeating/obesity; ID; underdeveloped genitals
  • 15q11.2-q13 dad is silenced
27
Q

Angelman syndrome
features
gene(s)

A
  • DD; ID; happy demeanor; ataxia; microcephaly; seizures; hand-flapping
  • 15q11.2-q13 mom is silenced; or UBE3A gene mutation
28
Q

SLOS
features
gene(s)
inheritance

A
  • growth retardation; ID; multiple malformations
  • DHCR7 gene
  • AR inheritance
29
Q

NF1 diagnostic criteria

A

meet 2 or more:

  • 6+ CALMs
  • 2+ neurofibromas OR 1 plexiform neurofibroma
  • freckling in axillary or inguinal regions
  • optic glioma
  • 2+ Lisch nodules
  • distinctive osseus lesion
  • 1st degree relative w/NF1
30
Q

Marfan diagnostic criteria

in absence of family hx

A

any of the following:

  • aortic root enlargement AND ectopia lentis
  • aortic root enlargement AND a pathogenic FBN1 variant
  • aortic root enlargement AND a systemic score 7+
  • ectopia lentis AND a pathogenic FBN1 variant associated with aortic enlargement
31
Q

Marfan diagnostic criteria

with positive family hx

A

a first-degree relative plus any of the following:

  • ectopia lentis
  • systemic score 7+
  • aortic root enlargement
32
Q

Galactosemia
features
gene(s)
inheritance

A
  • severe symptoms in untreated infants; with lactose-restriction still risk for DD and POI
  • GALT gene
  • AR inheritance

ABGC (34 decks)

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