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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
Most common renal defect with turner
horseshoe kidney
26
Most common cardiac defects with turner
- bicuspid aortic valve | - coarc is next
27
Morbidities with Tuner
- 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
When do you suspect turner and what do you get
- unexplained short stature in girl | - no pubertal development at 13 years of age
29
Presentation XXY or Klinefelter
- tall and thin - small penis - gynecomastia
30
Morbidities Klinefelter
- average IQ decrease with learning disabilities | - infertility due to decreased testosterone so may need replacement
31
Presentation, Morbitidies and genetic in Fragile X
- 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
WAGR or Aniridia tumor association presentation, test, and prognosis
- Wilms Tumor - Aniridia (and others) - GU (cryptochordism, hypospadias - Retardation moderate to severe - microarray - prognosis based on tumor
33
Noonan Genetics and Phenotype
- abnormal gene - occurs in boys!!!! - short, MR, posterior neck findings, pectus, small penis, cryptorchidism
34
Morbidities Noonan
- pulmonic valve stenosis! - bleeding disorders - can have normal fertility (no ovarian dysgenesis)
35
Genes and Phenotype of Williams Syndrome
- abnormal gene - mild IUGR/microcephaly - characterized by learning disability - VERY FRIENDLY and love to talk
36
Morbidities William Syndrome
- renal + renovascular HTN - supravalvular aortic stenosis - hypercalcemia
37
Genetics and Risk for achondroplasia
- AD though most are new mutations - abnormal fibroblast gene - assd with older paternal age
38
Phenotype Achondroplasia
- 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
Morbidities Achondroplasia
- risk of spinal compression fracture - increased risk hydrocephalus - obeisty
40
Marfan genetics
- fibrillin | - AD with variable epressivity
41
Cardiac conditions assd with Marfan
- aortic aneurysm 2/2 dilation of ascendign aortic - aortic insufficiency - MVP
42
Genetics Ehlers Danlos
- fibrillar collagen | - AD with wide expressivity
43
Phenotype and Morbid Ehlers Danlos
- small stature - hyperextensible, fragile skin and ears - poor healig - lens dislocation - aortic root dilatation
44
Genetics and cause Homocystinuria
- autsomal recessive | - itnerference with crosslinking of collagen because of decreased cystathionine synthetase; accumulation of homocystine
45
Morbidity Homocystinuria
- marfanoid - downward lens subluxation (marfan is up) - THROMBOEMBOLISM!!!!
46
Genes and Presentation Beckwith Wiedemann
- sporadic chromo imbalance 11 - pancreatic islet cell hyperplacia; severe hypoglycemia - hemihypertrophy - omphalocele - wilms - macrosomia
47
What is Sotos Syndrome
- LGA with increased growth velocity through childhood - advanced bone age - mental deficiency, neurodevelopment problems
48
What causes Poland Syndrome
primary defect in development of proximal subclavian artery resulting in unilateral decreased blood flow to pectoral muscles and limb --usually sporadic
49
Phenotype Poland Syndrome
- unilateral - males - hypoplasia of pectoralis major and nipple with rib defects - distal arm hypoplasia with short or missing fingers - if on left dextrocardia
50
What is Radial Aplasia Thrombocytopenia Syndrome
- bilateral absent radius, ulnar hypo or aplasia, abnomral umerus, have thumbs - abnormal megakaryocytes so usually die of hemorrhage
51
Genetics Treacher Collins
-AD with variable exppressivity; most sporadic on chromo 5
52
Phenotype Treacher Collins
- down slanting palpebral fissues - mandibular and malar hypoplasia - scalp hair lateral cheek - deformation of lower lid with possible coloboma - visual / hearing loss
53
Genetics and Presentation Waardenburg Syndrome
- AD; gene 2 - partial oculocutaneous albinism with white forelock - severe bilateral hearing loss - busy unibrow
54
Cause Prader Willis
-typically dads genes are expressed so if there is an issue in imprinting and paternal genes are not expressed this results
55
Presentation Prader Willi
- neonatal hypotonia - short stature - OBESITY - mental retardation - small hypoplastic external genitalia; cryptochidism in boys
56
Phenotype Angelmann
- ataxia with jerky arm movements - cerebral atrophy - seizures - severe MR - laugh paroxysms - little to no speech
57
Cause Angelman
usually mothers genes are expressed, but if there is imprinting of moms genes then this results --also uniparental disomy, translocation etc
58
Genetics Menke Kinky Hair
-X linked recessive resulting in copper transportation failure; low copper and ceruloplasm
59
Presentation Menkes
- 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
Cardiac Defects assd with FAS
- VSD - ASD - TOF
61
Fetal Warfarin Syndrome
- flat nasal bridge - groove on nose - seizures - short fingers with nail hypoplasia
62
Retinoic Acid Embryopathy
- mental deficiency - facial asymmetry and paralysis - conotruncal lesions
63
Fetal Valproate Syndrome
- midface hypoplasia, short nose with anteverted nostrils - cleft lip - HLHS, conotruncal defect - meningomyelocele - bone abnormalities

Kaplan (8 decks)

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