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Pediatrics > Genetics & Metabolism > Flashcards

Genetics & Metabolism Flashcards

1
Q

CATCH-22 microdeletion syndromes

  1. What chromosomal microdeletion?
  2. What embryologic abnormality?
  3. What three diseases?

CATCH

  • -Cardiac
  • -Abnormal facies
  • -Thymic hypoplasia
  • -Cleft palate
  • -Hypocalcemia
A

CATCH-22 microdeletion syndromes

  1. 22q11 microdeletion
  2. abnormal development of 3rd and 4th pharyngeal pouches
  3. DiGeorge Syndrome, Velocardial Facial Syndrome, Conotruncal Anomaly Face Syndrome

CATCH

  • Cardiac
  • Abnormal facies
  • Thymic hypoplasia
  • Cleft palate
  • Hypocalcemia
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2
Q

Syndrome: fetal macrosomnia, macroglossia, median abdominal wall defect, hemihyperplasia, hypoglycemia; rapid growth until late childhood

Name?

Deregulation of imprinted gene expression on what chromosome?

Increased risk of what two cancers?

A

Beckwith-Wiedemann Syndrome

Deregulation of imprinted gene expression on chr 11p15
*gene that encodes for IGF-2

Increased risk for hepatoblastoma, Wilms tumor
*requires monitoring via serum AFP, abdominal US

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3
Q

Phenylketonuria
–normal at birth; MR; growth retardation; seizures; fair hair and skin; eczema; blue eyes; musty urine odor

  1. Mode of inheritance?
  2. Enzyme deficiency?
  3. Failure to convert Phe to what AA?
A

Phenylketonuria (PKU)

  • -AR; deficiency of phenylalanine hydroxylase
  • -accumulation of phenylalanine; failure to convert Phe to Tyr
  • -normal at birth; MR; growth retardation; seizures; fair hair and skin;eczema; blue eyes; musty urine odor
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4
Q

Classic Galactosemia
–jaundice; hypoglycemia; cataracts; MR; poor growth

  1. Mode of inheritance?
  2. Enzyme deficiency?
  3. Predisposition to what type of infection?
A

Classic Galactosemia

  • -AR; deficiency of Gal-1-P-uridylyltransferase
  • -accumulation of Gal-1-P with injury to kidney, liver, brain
  • -jaundice; hypoglycemia; cataracts; MR; poor growth
  • -predisposition to E.coli sepsis

Tx: no galactose; will reverse growth failure, kidney and liver abnormalities and cataracts; but NOT MR

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5
Q

Fructose Intolerance
–vomiting, poor feeding, and lethargy in an infant following introduction of fruits and vegetables into diet; hypoglycemia; jaundice; cirrhosis

  1. Mode of inheritance?
  2. Enzyme deficiency?
A

Fructose Intolerance

  • -AR; deficiency of Aldolase B
  • -vomiting, poor feeding, and lethargy in an infant following introduction of fruits and vegetables into diet; hypoglycemia; jaundice; cirrhosis

Tx: decrease intake of fructose and sucrose

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6
Q

Homocystinuria

MoI?

Enzyme deficiency?

Features

  • -Marfanoid habitus: tall; long limbs; joint hyperlaxity; downward lens dislocation; chest deformities
  • -developmental delay; fair hair and eyes; thromboembolism

Labs
–elevated homocysteine, methionine

Tx with what vitamin?

A

Homocystinuria
–AR

Pathphys

  • -deficiency of cystathione synthetase
  • -can’t convert homocysteine to cystathione

Labs
–elevated homocysteine, methionine

Features

  • -Marfanoid habitus: tall; long limbs; joint hyperlaxity; downward lens dislocation; chest deformities
  • *developmental delay, fair hair and eyes; thomboembolism

Tx: Vitamin B6

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7
Q

Marfan Syndrome
–tall stature; chest deformity; long, slim limbs; arachnodactylyl; joint laxity; kyphoscoliosis; lens subluxation; aortic root dilatation (potential aneurysm)

  1. Mode of inheritance?
  2. Defect in what gene?
A

Marfan Syndrome

  • -AD
  • -mut in Fibrillin-1 gene

Features
–tall stature; long, slim limbs; arachnodactyly; joint laxity; kyphoscoliosis; upward lens dislocation; aortic root dilatation (potential aneurysm)

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8
Q

Ehlers-Danlos Syndrome
–droopy ears; hyperextensible skin; easily bruised; poor wound healing; joint hyperlaxity; aortic root dilatation; blue sclera; ectopia lentis

  1. Mode of inheritance?
A

Ehlers-Danlos Syndrome

  • -AD
  • -droopy ears; hyperextensible skin; easily bruised; poor wound healing; joint hyperlaxity; aortic root dilatation; blue sclera; ectopia lentis
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9
Q

Fabry’s Disease

  • -lysosomal storage disease
  • -angiokeratomas; painful neuropathy; cardiac and renal failure; asymptomatic corneal dystrophy
  1. Mode of inheritance?
  2. Enzyme deficiency?
A

Fabry’s Disease

  • -XLR; deficiency of alpha-galactosidase A
  • -angiokeratomas; painful neuropathy; cardiac and renal failure; asymptomatic corneal dystrophy
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10
Q

Krabbe’s Disease

  • -lysosomal storage disease
  • -progressive neurodegeneration: intellectual disability, blindness, deafness, paralysis, seizures, optic atrophy
  1. Mode of inheritance?
  2. Enzyme deficiency?
A

Krabbe’s Disease

  • -AR; galactocerebrosidase deficiency
  • -failure to convert ceramide trihexoside to glucocerebroside
  • -progressive neurodegeneration: intellectual disability, blindness, deafness, paralysis, neuropathy, seizures, optic atrophy
  • -globoid cells
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11
Q

Gaucher Disease

  • -lysosomal storage disease
  • -pancytopenia; tissue paper macrophages; bone crises; aseptic necrosis of femur
  1. Mode of inheritance?
  2. Enzyme deficiency?
A

Gaucher Disease

  • -AR; glucocerebrosidase deficiency
  • -failure to convert glucocerebroside to ceramide
  • -pancytopenia; tissue paper macrophages (gaucher cells); bone crises; aseptic necrosis of femur
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12
Q

Tay Sachs

  • -Mode of inheritance?
  • -Enzyme deficiency?

Neimann-Pick

  • -Mode of inheritance?
  • -Enzyme deficiency?

Which one has hepatosplenomegaly?

A

Tay-Sachs

  • -AR; hexosaminodase A deficiency
  • -cherry red spot; progressive neurodegeneration

Neimann-Pick

  • -AR; sphingomyelinase deficiency
  • -cherry red spot; progressive neurodegeneration
  • -hepatosplenomegaly; foam cells
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13
Q

Down Syndrome (Trisomy 21)

Genetics: nondisjunction

Skin: slanting palpebral fissures; speckling of the iris (Brushfield spots); inner epicanthal folds; single palmar crease

Neuro: hypotonia; hearing loss; MR; early onset Alzheimer

Cardiac: two most common anomalies?

GI: duodenal atresia, Hirschprung

Endo: most common abnormality?

MSK: name of rare abnormality?

Onco: most common type of cancer?

A

Down Syndrome (Trisomy 21)

Genetics: nondisjunction

Skin: slanting palpebral fissures; specking of the iris (Brushfield spots); inner epicanthal folds; single palmar crease

Neuro: hypotonia, hearing loss; MR; early onset Alzheimer

Cardiac

  • -endocardial cushion defect
  • -VSD

GI: duodenal atresia; Hirschprung

Endo: hypothyroidism

MSK: atlanto-axial instability

  • -laxity in posterior transverse ligament of C1-C2
  • -compression of spinal cord
  • -behavioral changes, UMN signs, dizziness, urinary incontinence

Onco: ALL

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14
Q

MR; learning problems; large ears; large jaw; long face; large testes

Dx?
MoI?

A

Fragile X Syndrome

  • -MR; learning problems; large ears; large jaw; long face; large testes
  • -XLD
  • -variable number of repeat CGG; aberrant methylation of FMR1 gene
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15
Q

MR; behavioral problems; long limbs; hypogonadism; cryptorchidism; gynecomastia

Dx?
Karyotype?

A 
Klinefelter Syndrome (XXY)
--MR; behavioral problems; long limbs; hypogonadism; cryptorchidism; gynecomastia
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16
Q

Appearance: female; short stature; broad chest; widely-spaced nipples; low posterior hairline; dysplastic nails

Renal: horseshoe kidney

CV: bicuspid aortic valve; coarctation

Lymph: congenital lymphedema –> edema of hands, feet, neck (webbed)

OB/GYN: streak ovaries

Dx?
Karyotype?

A

Turner Syndrome (XO)

Tx:

  • -estrogen
  • -may increase height with GH, steroids
17
Q

MR; low-set ears; microcephaly; micrognathia; prominent occiput; clenched hand with overlapping digits; absent palmar creases; VSD; rocker-bottom feet; omphalocele

Dx?
Karyotype?

A

Edwards Syndrome

Trisomy 18

18
Q

MR; microcephaly; micropthalmia; severe cleft lip or palate; scalp defects; postaxial polydactyly

Dx?
Karyotype?

A

Patau Syndrome

Trisomy 13

19
Q

MR; obesity; food-related behavior issues (eg, binge eating); small hands, feet and genitalia; almond-shaped eyes; hypothalamic-pituitary dysfunction

Dx?
15q11q13 deletion of maternal or paternal copy?

A

Prader-Willi Syndrome

  • -deletion of paternal copy
  • -two copies of maternal section
20
Q

MR; paroxysms of inappropriate laughter; absent speech; ataxia and jerky arm movements

Dx?
15q11q13 deletion of maternal or paternal copy?

A

Angelman Syndrome

  • -deletion of maternal copy
  • -two copies of paternal section
21
Q

DDx: Glycogen Storage Diseases
*AR

  1. Type 1; seizures; stunted growth; fat cheeks; thin extremities; hypoglycemia; hyper trigyceridemia; lactic acidosis; hyperuricemia; hepatomegaly
    - -Name? Enzyme deficiency?
  2. Type 2; hypotonia; macroglossia; hepatomegaly; cardiomegaly; hypoglycemia
    - -Name? Enzyme deficiency?
  3. Type 3; hypoglycemia; hypertriglyceridemia; stunted growth; hepatomegaly; splenomegaly; NORMAL lactate and uric acid; elevated transaminases
    - -Name? Enzyme deficiency?
  4. Type 5; muscle cramping and fatigue with exercise
    - -Name? Enzyme deficiency?
A

DDx: Glycogen Storage Diseases

Von Gierke Disease; Type 1

  • glucose-6-phosphatase
  • -hypoglycemia; hypertriglyceridemia; lactic acidosis; hyperuricemia; hepatomegaly

Pompe Disease; Type 2

  • acid maltase (lysosomal alpha-1,4-glucosidase)
  • -hypotonia; macroglossia; hepatomegaly; cardiomegaly; hypoglycemia

Cori Disease; Type 3

  • debranching enzyme (alpha-1,6-glucosidase)
  • -hypoglycemia; hypertriglyceridemia; stunted growth; hepatosplenomegaly; NORMAL lactate and uric acid; elevated transaminases

McArdle Disease; Type 5

  • glycogen phosphorylase (myophosphorylase)
  • -muscle craming and fatigue with exercise
22
Q

Crigler-Najjar Syndrome

  • -unconjugated hyperbilirubinemia
  • -jaundice
  • -kernicterus
  • -death within a few years

Absence of what enzyme?

A

Crigler-Najjar Syndrome

Absent UDP-glucuronosyltransferase

Unconjugated hyperbilirubinemia

  • -jaundice
  • -kernicterus
  • -death within a few years
  • Gilbert Syndrome
  • -mildly deficient UDP-glucuronosyltransferase
  • -asymptomatic; mild jaundice during stress
23
Q

Presentation

  • -cafe au lait spots
  • -multiple bone fractures
  • -precocious puberty
  • -other endocrine abnormalities

Dx?

A

McCune-Albright Syndrome

  • -cafe au lait spots
  • -polyostotic fibrous dysplasia
  • -precocious puberty
  • -multiple endocrine abnormalities

Path: defective G-protein cAMP kinase function

24
Q

Cri-du-chat syndrome
–cat-like cry, microcephaly, hypotonia, short stature

What type of chromosomal deletion?

A

Cri-du-chat syndrome

  • -cat-like cry, microcephaly, hypotonia, short stature
  • -5p chromosomal deletion

Pediatrics (13 decks)

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