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Kaplan > Genetics > Flashcards

Genetics Flashcards

1
Q

Increased AFP

A
  • intestinal atresias
  • NTDs
  • twins
  • fetal death
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2
Q

Decreased AFP

A
  • aneuploidy

- trisomies

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3
Q

What is translocation?

A

break in chromosome with rearrangement

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4
Q

Phenotype of balanced translocation

A

normal (no phenotypic expression)

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5
Q

What is significance of balanced trasnlocation?

A

can result in trisomy in kiddo if they give the normal and the translocated one (recurrence if 4 to 5 % if parent has rather than if they have a kiddo with full trisomy)

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6
Q

Uniparental Disomy

A

-two alleles from same parent with none from other or only some from one parent and none from other

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7
Q

How does XLinked dominant usually show up

A

-phenotypic expression in females with severe or lethal affects in males

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8
Q

How does Mitochondiral show up

A

only passed on by females

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9
Q

Potter Sequence

A
  • facies: flat nose / ears, inner canthal and infraorbital skin folds
  • pulmonary hypoplasia
  • decreased joint mobility of hands and feat
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10
Q

Robin Sequence

A
  • hypoplasia of mandible -> retrognathia -> abnormal palate

- -long term few issues

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11
Q

VACTERL Assn

A
  • Vertebral
  • Anal Atresia
  • Cardiac (MC VSDs, singlin umbilical artery)
  • TEF +/-esophageal atresia
  • renal
  • limb (radial defect)
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12
Q

Charge assn

A
  • Coloboma
  • Heart (DORV, TOF, VSD)
  • Choanel Atresia
  • Retardiation
  • genital hypoplasia
  • ear anomalies +/- deaf
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13
Q

What is the most common type of craniosynostosis?

A

sagittal

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14
Q

Presentation sagittal synostosis

A
  • biparietal constrained

- head long and narrow with prominent forhead and occiput

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15
Q

Most dangerous synostosis

A

sagittal and coronal due to c/f ICP

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16
Q

Coronal Synostosis

A

-high forhead and shallow orbits; ocular hypertelorism; midface hypoplasia

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17
Q

Most common heart defect trisomy 21

A

endocardial cushion defect

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18
Q

GI anomalies assd with trisomy 21

A
  • duodenal atresia
  • hirschsprung
  • TEF
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19
Q

Presentation Trisomy 13

A

-IUGR, microcephaly, micropthalmia, cleft lip / palate, finger flexion, abnoraml scrotium polydactyly

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20
Q

Prognosis and Morbidities of Trisomy 13

A
  • CNS: holoprosencephaly
  • cardiac: septal
  • death
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21
Q

Presentation Trisomy 18

A

clenched hand with index finger over the third and fifth finger over the fourth, rocker bottom feet, short sternum, omphlacele

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22
Q

Prognosis and Morbidities of Trisomy 18

A
  • cardiac: septal
  • bone and joint
  • omphalecele
  • death
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23
Q

What tests do you get for all trisomys? and who else gets test if translocation?

A

karyotype; parents

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24
Q

Findings XO or Turner

A
  • small stature
  • gonadal dysgenesis
  • congenital lymphedema
  • broad chest
  • webbed neck; loose skin at neck
  • bone and joint: cubitus valgus (forearm angled away)
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25
Q

Most common renal defect with turner

A

horseshoe kidney

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26
Q

Most common cardiac defects with turner

A
  • bicuspid aortic valve

- coarc is next

27
Q

Morbidities with Tuner

A
  • renal: renovascular HTN, horseshoe
  • cardiac: MC bicuspid aortic valve then coarc
  • hypothyroidism
  • really no ovarian function; estrogen therapy indicated and may need GH
  • adults at increased risk of aortic dissection
28
Q

When do you suspect turner and what do you get

A
  • unexplained short stature in girl

- no pubertal development at 13 years of age

29
Q

Presentation XXY or Klinefelter

A
  • tall and thin
  • small penis
  • gynecomastia
30
Q

Morbidities Klinefelter

A
  • average IQ decrease with learning disabilities

- infertility due to decreased testosterone so may need replacement

31
Q

Presentation, Morbitidies and genetic in Fragile X

A
  • mild to severe mental retardiation
  • large head and jaw and ears
  • macro orchidism
  • ADHD, autism, mitral valve prolapse, aortic dilation
  • repeat CGG on X chromo; get molecular analysis
  • boys more affecte
32
Q

WAGR or Aniridia tumor association presentation, test, and prognosis

A
  • Wilms Tumor
  • Aniridia (and others)
  • GU (cryptochordism, hypospadias
  • Retardation moderate to severe
  • microarray
  • prognosis based on tumor
33
Q

Noonan Genetics and Phenotype

A
  • abnormal gene
  • occurs in boys!!!!
  • short, MR, posterior neck findings, pectus, small penis, cryptorchidism
34
Q

Morbidities Noonan

A
  • pulmonic valve stenosis!
  • bleeding disorders
  • can have normal fertility (no ovarian dysgenesis)
35
Q

Genes and Phenotype of Williams Syndrome

A
  • abnormal gene
  • mild IUGR/microcephaly
  • characterized by learning disability
  • VERY FRIENDLY and love to talk
36
Q

Morbidities William Syndrome

A
  • renal + renovascular HTN
  • supravalvular aortic stenosis
  • hypercalcemia
37
Q

Genetics and Risk for achondroplasia

A
  • AD though most are new mutations
  • abnormal fibroblast gene
  • assd with older paternal age
38
Q

Phenotype Achondroplasia

A
  • shortening of proximal segments of legs (increased upper:lower ratio)
  • large head with short base
  • lumbar lordosis
  • abnormal vertebral bodies with short spaces
  • prominent forehead, midface hypoplasia
  • intelligence is normal
39
Q

Morbidities Achondroplasia

A
  • risk of spinal compression fracture
  • increased risk hydrocephalus
  • obeisty
40
Q

Marfan genetics

A
  • fibrillin

- AD with variable epressivity

41
Q

Cardiac conditions assd with Marfan

A
  • aortic aneurysm 2/2 dilation of ascendign aortic
  • aortic insufficiency
  • MVP
42
Q

Genetics Ehlers Danlos

A
  • fibrillar collagen

- AD with wide expressivity

43
Q

Phenotype and Morbid Ehlers Danlos

A
  • small stature
  • hyperextensible, fragile skin and ears
  • poor healig
  • lens dislocation
  • aortic root dilatation
44
Q

Genetics and cause Homocystinuria

A
  • autsomal recessive

- itnerference with crosslinking of collagen because of decreased cystathionine synthetase; accumulation of homocystine

45
Q

Morbidity Homocystinuria

A
  • marfanoid
  • downward lens subluxation (marfan is up)
  • THROMBOEMBOLISM!!!!
46
Q

Genes and Presentation Beckwith Wiedemann

A
  • sporadic chromo imbalance 11
  • pancreatic islet cell hyperplacia; severe hypoglycemia
  • hemihypertrophy
  • omphalocele
  • wilms
  • macrosomia
47
Q

What is Sotos Syndrome

A
  • LGA with increased growth velocity through childhood
  • advanced bone age
  • mental deficiency, neurodevelopment problems
48
Q

What causes Poland Syndrome

A

primary defect in development of proximal subclavian artery resulting in unilateral decreased blood flow to pectoral muscles and limb
–usually sporadic

49
Q

Phenotype Poland Syndrome

A
  • unilateral
  • males
  • hypoplasia of pectoralis major and nipple with rib defects
  • distal arm hypoplasia with short or missing fingers
  • if on left dextrocardia
50
Q

What is Radial Aplasia Thrombocytopenia Syndrome

A
  • bilateral absent radius, ulnar hypo or aplasia, abnomral umerus, have thumbs
  • abnormal megakaryocytes so usually die of hemorrhage
51
Q

Genetics Treacher Collins

A

-AD with variable exppressivity; most sporadic on chromo 5

52
Q

Phenotype Treacher Collins

A
  • down slanting palpebral fissues
  • mandibular and malar hypoplasia
  • scalp hair lateral cheek
  • deformation of lower lid with possible coloboma
  • visual / hearing loss
53
Q

Genetics and Presentation Waardenburg Syndrome

A
  • AD; gene 2
  • partial oculocutaneous albinism with white forelock
  • severe bilateral hearing loss
  • busy unibrow
54
Q

Cause Prader Willis

A

-typically dads genes are expressed so if there is an issue in imprinting and paternal genes are not expressed this results

55
Q

Presentation Prader Willi

A
  • neonatal hypotonia
  • short stature
  • OBESITY
  • mental retardation
  • small hypoplastic external genitalia; cryptochidism in boys
56
Q

Phenotype Angelmann

A
  • ataxia with jerky arm movements
  • cerebral atrophy
  • seizures
  • severe MR
  • laugh paroxysms
  • little to no speech
57
Q

Cause Angelman

A

usually mothers genes are expressed, but if there is imprinting of moms genes then this results
–also uniparental disomy, translocation etc

58
Q

Genetics Menke Kinky Hair

A

-X linked recessive resulting in copper transportation failure; low copper and ceruloplasm

59
Q

Presentation Menkes

A
  • neurodegeneration with death at 3
  • hair loses pigment starting at 6 weeks
  • hair spares, broken, twisted
  • abnormal skin
  • assd wtih vascular, skeletal, GI and urinary tract issues
60
Q

Cardiac Defects assd with FAS

A
  • VSD
  • ASD
  • TOF
61
Q

Fetal Warfarin Syndrome

A
  • flat nasal bridge
  • groove on nose
  • seizures
  • short fingers with nail hypoplasia
62
Q

Retinoic Acid Embryopathy

A
  • mental deficiency
  • facial asymmetry and paralysis
  • conotruncal lesions
63
Q

Fetal Valproate Syndrome

A
  • midface hypoplasia, short nose with anteverted nostrils
  • cleft lip
  • HLHS, conotruncal defect
  • meningomyelocele
  • bone abnormalities

Kaplan (8 decks)

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