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2. Genetics > Autosomal chromosome > Flashcards

Autosomal chromosome Flashcards

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1
Q

[Gen/Autosomal trisomy/T21]

Facial characteristics of Trisomy 21 (Down) (6)?

A
  1. Upslanted palpebral fissures
  2. Epicanthal folds
  3. Brushfield spots (iris)
  4. Flat midface/Full cheeks
  5. Protruding tongue
  6. High-arched palate
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2
Q

[Gen/Autosomal trisomy/T21]

Hand/toe characteristics of Down syndrome (3)

A
  1. Single transverse palmar crease
  2. Brachydactyly/clinodactyly
  3. Broad space between 1st and 2nd toes
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3
Q

[Gen/Autosomal trisomy/T21]

Heart defects (3) and cardiac problem (1) of Down syndrome

A
  1. ASD
  2. AVSD
  3. VSD

Pulmonary hypertension

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4
Q

[Gen/Autosomal trisomy/T21]

GI defects of Down syndrome (3)

A
  1. Duodenal atresia
  2. Hirschprung
  3. Celiac disease
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5
Q

[Gen/Autosomal trisomy/T21]

Eye disorders of Down syndrome (3)

A
  1. Cataracts
  2. Strabismus
  3. Refraction error
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6
Q

[Gen/Autosomal trisomy/T21]

Orthopedic disorders of Down syndrome (1)

A
  1. Atlantoaxial (C1-C2) instability
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7
Q

[Gen/Autosomal trisomy/T21]

Symptoms of atlantoaxial instability? (4)

A
  1. neck pain
  2. torticollis
  3. gait abnormalities
  4. loss of bowel or bladder control
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8
Q

[Gen/Autosomal trisomy/T21]

Neurologic disorders of Down syndrome (4)

A
  1. Developmental delays
  2. Seizures
  3. Cognitive dysfunctions at 40s
  4. Dementia or Alzheimer’s
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9
Q

[Gen/Autosomal trisomy/T21]

Endocrine disorders of Down syndrome (2)

A
  1. Hypothyroidism
  2. T2DM
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10
Q

[Gen/Autosomal trisomy/T21]

Heme/onc disorders of Down syndrome (2)

A
  1. Leukemia - ALL (m/c)
  2. Transient myeloproliferative disorder
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11
Q

[Gen/Autosomal trisomy/T21]

Most common cell line of transient myeloproliferative disorder of Down syndrome?

A

Megakaryocytes

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12
Q

[Gen/Autosomal trisomy]

2nd most common autosomal trisomy?

A

Trisomy 18 (Edwards)

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13
Q

[Gen/Autosomal trisomy/T18]

Facial charateristics of Trisomy 18 (Edwards) (3)

A
  1. High forehead
  2. Microcephaly
  3. Small face/mouth
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14
Q

[Gen/Autosomal trisomy/T18]

Body characteristics of Trisomy 18 (Edwards) (4)

A
  1. Rocker bottom feet
  2. Overlapping fingers
  3. Short sternum
  4. Hypoplastic nails
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15
Q

[Gen/Autosomal trisomy/T18]

Chromosomal cause of Trisomy 18 (Edwards)?

80 %: __
20 %: __

A
  1. 80 %: 3 copies of chromosome
  2. 20 %: mosaicism or partial trisomy
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16
Q

[Gen/Autosomal trisomy/T18]

Most common cause of death for Trisomy 18 (Edwards)

A

Central apena

17
Q

[Gen/Autosomal trisomy/T18]

Female to male ratio of Trisomy 18 (Edwards)

A

Trisomy 18
Female: male 4:1

18
Q

[Gen/Autosomal trisomy]

3rd most common autosomal trisomy?

A

Trisomy 13 (Patau)

19
Q

[Gen/Autosomal trisomy/T13]

Chromosomal causes of Trisomy 13 (Patau)?

80%: __
20%: __

A

80%: 3 copies of chromosome 13
20%: Chromosome 13 long arm translocation

20
Q

[Gen/Autosomal trisomy/T13]

Facial/skin characteristics of Trisomy 13 (Patau) (4)

A
  1. Orofacial cleft (m/c mid line cleft lip)
  2. Microphthalmia
  3. Low-set, dysplastic ears
  4. Aplasia cutis
    (Patau 13 midline defect)
21
Q

[Gen/Autosomal trisomy/T13]

Chest/Abdomen/GU characteristics of Trisomy 13 (Patau) (4)

A
  1. Heart malformation
  2. Hypoplastic or absent ribs
  3. Abdominal wall defetcs
  4. Genital anomalies
22
Q

[Gen/Autosomal trisomy/T13]

Neurologic anomalies of Trisomy 13 (Patau) (2)

A
  1. Holoprosencephaly
  2. Spinal cord abnormalities
23
Q

[Gen/Autosomal trisomy/T13]

Hands/feet characteristics of Trisomy 13 (Patau) (3)

A
  1. Postaxial polydactyly
  2. Clenched hands
  3. Rocker bottom feet
24
Q

[Gen/Autosomal trisomy/T13]

Unique congenital anomalies of Trisomy 13 (Patau), compared to Trisomy 18 (Edwards) (4)

A
  1. Holoprosencephaly
  2. Microphthalmia
  3. Polydactyly
  4. Aplasia cutis congenita
25
Q

[Gen/Autosomal trisomy]

Which autosomal trisomy with aplasia cutis?

A

Trisomy 13, Patau

26
Q

[Gene/Autosomal trisomy]

Which autosomal trisomy with short sternum?

A

Trisomy 18 (Edward)

27
Q

[Gene/Autosomal trisomy/T13]

Median survival time for Trisomy 18 (Edwards)
Median survival time for Trisomy 13 (Patau)

A

Trisomy 18: 2-14 days
Trisomy 13: 7-10 days

28
Q

[Gen/CNV/trinucleotide repeat]

Examples of Trinucleotide repeat diseases (3)

A
  1. Fragile X
  2. Friedreich ataxia
  3. Huntington disease
29
Q

[Gen/CNV/trinucleotide repeat/FXS]

Site, location and repeat of ‘fragile site’ for Fragile X?

A

Xq27.3

5’ untranslated
promoter region
upstream of FMR1 gene

Repeat: CGG

30
Q

[Gen/CNV/trinucleotide repeat/FXS]

Premutation/Full mutation for Fragile X?

A

Normal: <55
Premutation 55-200
Full mutation >200

31
Q

[Gen/CNV/trinucleotide repeat/FXS]

Male full mutation symptoms for Fragile X (5)

A
  1. Large head/long face
  2. Large hands/feet
  3. Intellectual disability
  4. Macroorchidism after puberty
  5. Hyperextensible joints
32
Q

[Gen/CNV/trinucleotide repeat/FXS]

Symptoms of female full mutation carrier in Fragile X syndrome? (2)

A
  1. Mild cognitive/behavioral deficits
  2. Premature ovarian failure
33
Q

[Gen/CNV/trinucleotide repeat/FXS]

Symptoms for fragile X-associated tremor/ataxia syndrome? (3)

A
  1. Intention tremor
  2. Gait ataxia
  3. Parkinsonism
    (Occurs in >30% of male, >50 of age, progressive neurodegenerative disorder)
34
Q

[Gen/CNV/trinucleotide repeat/DM]

Gene, location, trinucleotide repeat for Myotonic dystrophy?

A

Gene: DMPK gene
Location: 3’ untranslated region of myotonin kinase (DMPK) gene
Repeat: > 50 CTG

35
Q

[Gen/CNV/trinucleotide repeat/DM]

Clinical muscular features of myotonic dystrophy? (3)

A
  1. Progressive weakness/wasting
  2. Involvement of facial and jaw muscles (ptosis, atrophy of SCM)
  3. Distal>Proximal, eg. Difficult to let go of handshake
36
Q

[Gen/CNV/trinucleotide repeat/DM]

Organ involved in myotonic dystrophy other than neurologic symptoms? (4)

A
  1. Eye: Cataract
  2. Cardiac: Cardiac conduction abnormalities
  3. Endo: Testicular atropy, DM
  4. Skin: Premature balding
37
Q

[Gene/Chr deletion/5p]

Characteristics of 5p deletion (Cri du chat syndrome)? (6)

A
  1. High-pitched cry
  2. Facial features: hypertelorism, low-set ears, micrognathia,
  3. Low birth weight
  4. Intellectual disability, microcephaly
  5. Hypotonia
  6. Heart defect
38
Q

[Gene/Chr deletion/4p]

Name of the syndrome with ‘greek warrior helmet’ face and Characteristics? (5)

A

4p deletion syndrome (Wolf-Hirschhorn syndrome)

  1. Growth: prenatal-onset, postnatal growth retardation
  2. Neuro: hypotonia with muscle underdevelopment, developmental delay/intellectual disability, seizures,
  3. Auditory: hearing loss (mostly conductive)
  4. Skeletal: skeletal anomalies (60%-70%)
  5. Heart: congenital heart defects (~50%)
39
Q

[Gene/Chr deletion]

Genetic cause of Wolf-Hirschhorn syndrome?

A

Heterozygous deletion of the Wolf-Hirschhorn syndrome critical region (WHSCR)
on chromosome 4p16.3

2. Genetics (19 decks)

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