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Maternal > Embryo pt.5 > Flashcards

Embryo pt.5 Flashcards

1
Q

Incidence of down syndrome

A

1 in 800

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2
Q

Incidence of trisomy 18

A

1 in 8000

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3
Q

Incidence of trisomy 13

A

1 in 12000

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4
Q

Usual clinical manifestations of down syndrome

A
  • Mental deficiency
  • brachycephaly
  • Flat nasal bridge
  • Flattened nose and face
  • Protruding tongue
  • Upward slant to palpebral fissures
  • Transverse palmar flexion crease
  • Clinodactyly of the fight finger (curvature of pinky fingure)
  • Congenital heart defects
  • GI tract abnormalities
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5
Q

What is brachycephaly?

A
  • decrease in the anteroposterior dimension of the skull
  • Lower than normal ratio of the skull’s length to its width
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6
Q

Usual clinical manifestations of Edwards syndrome

A
  • Mental deficiency
  • Growth retardation
  • Ventricular septal defect
  • Hypoplastic nails
  • Short sternum
  • Prominent occiput (back part of skull)
  • Micrognathia (smaller lower jaw)
  • Low set malformed eats
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7
Q

Usual clinical manifestations of patau syndrome

A
  • Mental deficiency
  • Severe CNS malformations
  • Sloping forehead
  • Malformed ears
  • Sloping forehead
  • Scalp defects
  • Microphthalmia (Eyes are abnormally small and have anatomic malformations
  • Polydactyly
  • Bilateral cleft lip and/or palate
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8
Q

Incidence of triple x syndrome

A

1 in 1000

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9
Q

Incidence of 47 XXY

A

1 in 1000

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10
Q

Incidence of 47 XYY

A

1 in 1000

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11
Q

Triple X syndrome usual characteristics

A
  • Normal in appearance
  • Usually fertile
  • 15-25% are mildly mentally deficient
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12
Q

Klinefelter syndrome characteristics

A
  • Small testes
  • Hyalinization of seminiferous tubules
  • Aspermatogenesis
  • Around 40% have gynecomastia
  • Often tall with disproportionately long lower limbs
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13
Q

Contiguous syndrome most commonly affected chromosomes

A

Chromosome 15 q12 (Angelman and Prader Willi), Chromosome 17 (Williams and Miller Deiker, Smith Magenis), Chromosome 22q11 (DiGeorge, Velocardiofacial)

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14
Q

47 XYY usual characteristics

A
  • Appear normal
  • Usually tall
  • Often exhibit aggressive behavior
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15
Q

Cause of DiGeorge

A

Del 22q11 (some cases)

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16
Q

Cause of Prader willi

A

Del 15q 12 (most cases) from paternal origin

17
Q

Cause of Angelman

A

Del 15q 12 (most cases) from maternal origin

18
Q

Cause of velocardiofacial

A

Del 22q11 (most cases)

19
Q

Examples of contiguous gene syndromes

A
  • Prader Willi
  • Angelman
  • Velocardiofacial
  • Beckwith-Wiedemann
  • Williams
  • Smith-Magenis
  • Di George
  • Miller-Dieker
20
Q

Cause of Miller-Dieker

A

Del 17 p13.3 (most cases)

21
Q

Cause of Beckwith-Wiedemann

A

Dup 11 p15(some cases) from paternal

22
Q

Cause of Williams

A

Del 17 q11.23 (most cases)

23
Q

Cause of Smith Magenis

A

Del 17 p11.2

24
Q

Clinical features of Prader-Willi

A
  • Hypotonia
  • Hypogonadism
  • Extreme obesity with hyperphagia
  • Distinct face
  • Short stature
  • Small hands and feet
  • Mild developmental delay
  • Learning disability
25
Q

Clinical features of Angelman

A
  • Microcephaly
  • Macrosomia
  • Ataxia
  • Excessive laughter
  • Seizure
  • Severe mental deficiency
26
Q

Clinical features of Miller Dieker

A
  • Type 1 lissencephaly
  • Dysmorphic face
  • Seizures
  • Severe developmental delay
  • Cardiac defects
27
Q

What is lissencephaly?

A

Literally means “smooth brain,” is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex)

28
Q

Clinical features of DiGeorge

A
  • Thymic hypoplasia
  • Parathyroid hypoplasia
  • Conotruncal cardiac defects
  • Facial dysmorphism
29
Q

Clinical feature of velocardiofacial

A
  • Palatal defects
  • Hypoplastic alae nasi
  • Long node
  • Conotruncal cardiac defects
  • Speech delay
  • Learning disorder
  • Schizophrenia like disorder
30
Q

Clinical features of Smith-Magenis

A
  • Brachycephaly
  • Broad nasal bridge
  • Prominent Jaw
  • Shot and broad hands
  • Speech delay
  • Mental deficiency
31
Q

Clinical features of Williams

A
  • Short stature
  • Hypercalcemia
  • Cardiac defects, especially supravalvular aortic stenosis
  • Characteristic elfin-like face
  • Mental deficiency
32
Q

Beckwith-Wiedemann clinical features

A
  • Macrosomia
  • Macroglossia
  • Omphalocele (some cases)
  • Hypoglycemia
  • hemihypertrophy
  • Transverse ear lobes
33
Q

Macrosomia meaning

A

Larger than average fetus/baby

34
Q

Macroglossia meaning

A

Tongue is larger than normal

Maternal (9 decks)

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