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Genetics Flashcards

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1
Q

What type of defect is potters sequence?

A

Primary defect malformation (renal issues) with secondary effects

Then deformation from oligohydramnios

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2
Q

Definition of major anomaly? Examples?

A
  • MAJOR ANOMALY: a congenital anomaly severe enough to need surgical intervention, increased morbidity and/or mortality, potentially has a long-term impact medically and/or psychologically.
  • Examples: cleft lip and palate, spina bifida / myelomeningocele, omphalocele, duodenal atresia, congenital heart disease
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3
Q

Définition of Minor Anomaly ?

Examples?

A
  • MINOR ANOMALY: a congenital anomaly that requires no treatment at all or can be easily corrected, do not cause increased morbidity or mortality, often common in population.
  • Examples: postaxial polydactyly, abnormal palmar creases, low-set ears, preauricular tag
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4
Q

Features of T18

A

Prominent occiput, low set ears, micrognathia, small mouth, high arched palate, clenched fists (2nd and 5th fingers overlapping 3rd and 4th), rockerbottom feet, hypoplastic nails (especially 5th fingernail), short sternum, hypertonia

CHD (VSD, PDA, ASD, poly-valvular disease) in 80-100%,
central apnea - respiratory failure, horseshoe kidneys

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5
Q

Describe Potters sequence

A
  • Deformation- External and internal abnormalities caused by oligohydramnios
  • Lack of fetal urine > oligohydramnios > fetus has a flat face due to compression of the face against the uterine wall, club foot due to no room for significant movement, and associated lung hypoplasia
  • “Potter facies”: wrinkly skin, low-set ears, flat nose & chin, widely spaced, epicanthal folds.
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6
Q

T21 is most at risk for

A. Intestinal atresia
B. Congenital hypothyroidism
C. Transient myeloproliferative disorder (TMD)
D. Hirschsprung’s disease

A

A. Intestinal atresia (Duodenal atresia)

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7
Q

Features of 22q11 deletion syndrome

A

CATCH 22
Cardiac- cotruncal
Abnormal facies
Thymic hypoplasia- mild moderate lymphopenia, immune deficiency
Cleft palate
Hypocalcemia

Airway/related: vascular ring, laryngeal web, subglottic stenosis
Gl: anteriorly placed/imperforate anus, esophageal atresia, umbilical / inguinal hernia
Hearing loss (sensorineural / conductive)
Developmental delay / learning difficulties (70%-90%)

Laboratory: hypoCa, hypoparathyroidism (50%),
GH deficiency, cytopenias (lymphopenia)

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8
Q

Noonan Syndrome:
genetics, clinical characteristics

A

AD, sporadic, wide variable expression
- CHD: most common pulmonary valve stenosis (PS), hypertrophic cardiomyopathy
- Turer like- Broad/webbed neck
- Low-set posteriorly rotated ears, blue-green irises, widely-spaced downslanting eyes, ptosis.
- Pectus excavatum
- Short stature
- Cryptorchidism
- Developmental delay (variable degree)
- Abnormalities coagulation cascade

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9
Q

How do you confirm T21

A

Routine Karyotype

Robertsoniam translocation - can increase risk for future pregnancies up to 15%

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10
Q

When to order microarray ?

A

It is the first-line test recommended by the American

College of Medical Genetics (ACMG) for multiple congenital anomalies that do not fit a specific pattern of diagnosis

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11
Q

How to test for CF?

A

Single gene sequencing: CFTR gene for cystic fibrosis.

The majority of infants with meconium ileus end up having cystic fibrosis. 20% of CF patients present in the neonatal period with meconium ileus.

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12
Q

How to test for BWS

A

DNA Methylation studies

Overgrowth Syndrome:
* Major findings: macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumor (e.g., Wilms tumor, hepatoblastoma), visceromegaly, anterior linear ear lobe creases and/or posterior helical ear pits, large placenta
* Minor findings (relatively common in population): polyhydramnios, prematurity, neonatal hypoglycemia, vascular lesions e.g. nevus simplex/flameus (forehead, back of the neck)

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13
Q

Most common gene imprinting error during in vitro fertilization

A

Beckwidth wiedemann syndrome

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14
Q

What is the genetic defect associated with transient neonatal diabetes mellitus? Chromosome?

A

Genomic imprinting
Chromosome 6

Manifests with IUGR, FTT, hyperglycemia and dehydration 4-6 weeks

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15
Q

3 year old girl with developmental delay, hand foot sucking and cheerful disposition. Dx and chromosomal location?

A

Angelman syndrome

Deletion of maternal inherited gene UBE3A on Chromosome 15q11

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16
Q

What diagnostic test do you send to diagnose uniparental disomy?

A

microarray

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17
Q

Supravalvular subaortic stenosis is associate with which syndrome?

A

Williams

7q11 deletion

Can also have peripheral pulmonic stenosis, hypoplastic nails, prominent lips, hoarse voice, stellate iris pattern, mental deficiency

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18
Q

Cell free fetal DNA is usually _______ than are maternally derived cfDNA

A

Shorter

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19
Q

Most commin presenting clinical manifestation klinefelter syndrome?

A

Infertility from azoospermia

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20
Q

Iugr, microcephaly, short sternum, camptylodactlyly, clenched hand, multicystic dysplastic kidney. Dx?

A

Trisomy 18

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21
Q

Triangular face, IUGR, 5th finger clinodactyly, leg length asymmetric, cryptoorchidism. Dx?

A

Silver Russell Syndrome

Remember this is a genomic imprinting disorder

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22
Q

Large polycystic kidneys, post axial polydactyly, occipital encephalocele. Dx?

A

Meckel Gruber syndrome (AR)

Chromosome 17

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23
Q

How is mRNA formed?

A

From transcription of DNA

Primary mRNA is formed first, undergoes splicing (removal of introns) to form mature mRNA

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24
Q

Ribosomal RNA

A

RNA that is part of ribosome and helps bind mRNa and tRNA to ribosome

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25
Transfer RNA
RNA that transports amino acids and assists in translation of mature mRNA The anticodon portion of tRNA (contains specific AA at 3’ end) binds to complementary mRNA codon
26
Transcription
MRNA is synthesized from DNA template
27
DNA polymerase
Enzyme important in DNA replication by utilizing complementary DNA strands as a template to synthesize new strand
28
RNA polymerase
Enzyme that binds to promoter region and synthesizes mRNA from a DNA template
29
Reverse transcriptase
Enzyme that transcribes RNA into DNA (reverses transcription)
30
Intron
Dna sequence of a gene located between 2 exons that is transcribed into mRNA but spliced out during formation of mature mRNA
31
Exon
DNA sequence of gene located between 2 introns that is transcribed into mRNA and retained after primary mRNA is spliced
32
Contains introns and exons
Genome
33
Exome
Coding region of genome (~1.5% of genome)
34
Promoter
DNA sequence located 5’ to a specific gene RNA polymerase binds to this region so that transcription (DNA to mRNA) can occur
35
Enhancer
Dna sequence that interacts with specific transcription factors and leads to increased transcription of gene Can act from a distance, brought into proximity by coiling
36
Polyadenylation sequence
Important for mRNA stabilization Facilitates export from nucleus to cytoplasm- where it is translated into protein 100-200 adenibe nucleotides locared at the 3’ end of primary mRNA
37
Translation
Process by which an aminoacid sequence is assembled utilizing mature mRNA tRNA is required for translation
38
Difference of southern, northern and western analysis
Southern analysis-DNA is digested and exposed to DNA probe Northern analysis-labeled DNA probe to digested RNA Western analysis- used to identify protein of interest
39
Arthrogryposis is what type of abnormal morphogenesis?
Deformation Associated with altered mechanical forces on normal tissue
40
What type of abnormal morphogenesis is amniotic band?
Disruption Breakdown of normal tissue
41
What type of abnormal morphogenesis is a hemangioma?
Dysplasia Abnormal organization of cellular formation into tissue. Ectodermal dysplasia is another example
42
What type of Abnormal morphogenesis is pierre robin?
Sequence Primary mandibular development with secondary findings of micrognathia, cleft palate and glossoptosis
43
Match the mutation with disease (point mutation, frameshift, splice cite ir triple repeat mutation) ``` CF Thalassemia Fragile X Sickle cell Myotonic dystrophy ```
CF- nonsense point mutation (stop codon, shorter protein) Thalassemia-splice site muration (intron isnt removed) Fragile X-trinucleotide repeat CGG>50 Sickle cell-missense point mutation glutamic acid to valine at Ch 6 Myotonic dystrophy CTG> 100 severe
44
Most common single gene disorder in the Caucasian population
Cystic fibrosis
45
Diseases associated with advanced paternal age
``` Achondroplasia Apert syndrome Crouzon syndrome Neurofibromatosis Osteogenesis imperfecta Thanatophoric dysplasia Klinefelter syndrome and Trisomy 21-possible slightly increased risk ```
46
Genetic disorders associated with advanced maternal age
Klinefelter syndrome Trisomy 13 Trisomy 18 Trisomy 21
47
How does newborn screen detect disease?
Mass spectrometry
48
Analysis of allele ratios in cfDNA is useful to detect
Aneuploidies
49
DNA methylation of cytosine of a Cpg dinucleotide is an example of which type of gene regulation?
Epigenetic modification
50
Cutis aplasia, polydactyly, narrow hyperconvex fingernails, holoprosencephaly, cleft lip and palate. Dx?
T13
51
What is a major diagnostic criterion with the highest frequency in CHARGE syndrome
Major diagnostic criteria: coloboma, choanal atresia, CN dysfunction, ear anomalies Minor criteria: heart defect, genital hypoplasia, Developmental delay, CL/CP Coloboma Heart Atresia (Choanal) Renal/Growth retardation GU hypoplasia Ear anomalies
52
What are the 3 epigenetic modifications?
Dna methylation Histone modification Imprinting and x inactivation
53
Broad thrumbs and 1st toes, beaked nose . Dx?
Rubenstein Taybi Syndrome Also have microcephaly, cryptorchidism, postnatal growth deficiency
54
Name the syndrome associated with supravalvular aortic stenosis
Williams syndrome 7q11 deletion of an elastin gene After supravalvular aortic stenosis next most common is peripheral pulmonic stenosis
55
Trident hands, megalocephaly with small foramen magnum, short limbs. Dx? And gene affected?
Achondroplasia, AD Fibroblast growth factor receptor 3 gene
56
Midface hypoplasia, craniosynostosis, broad distal phalanx of thumb/bigtoe, syndactyly. Dx? Maxillary hypoplasia, premature craniosynostosis, less risk of mental deficiency. Dx?
Apert syndrome=acrocephalosyndactyly Crouzon=Craniofacial dyostosis Both mutations in fibroblast growth factor 2 gene
57
Absent hypoplastic or abnormally shaped thumbs, ASD and narrow shoulders. Dx?
Holt oram syndrome
58
Flat facies, mid facial/mandibular hypoplasia and spondyloeouphyseal dysplasia. Dx? genetics?
Stickler syndrome AD COL2A
59
Clover leaf skull, large cranium to body size, bowed humerii, short limbs, narrow thorax. Dx?
Thanatophoric dysplasia AD, all cases secondary to new mutations Mutation in fibroblast growth factor receptor 3
60
White forelock, partial albinism, deafness. Dx? Associated instestinal anomaly?
Waardenburg Hirshprungs
61
Most common mechanism of altered imprinting in beckwith wiedeman syndrome
Loss of methylation of imprinting control region 2 on the maternal chromosome
62
Deletion of elastin gene, broad forehead, periorbital fullness, long philtrum, wide mouth. Dx and associsted cardiac anomaly
Williams syndrome Chromosome 7 Supravalvular aortic stenosis Also has hypercalcemia
63
3/4th syndactyly, large placenta, iugr Which disorder?
Triploidy 69XXX
64
What marker will help differentiate hypophosphatasia from other lethal skeletal dysplasias. What is treatment?
Alkaline phosphatase Enzyme replacement: asfotase alfa
65
Cleft palate Polydactyly Ambiguous genitalia Deficiency of 7 dehydro cholesterol
Smith Lemli opitz AR
66
MCC of adrenal insufficiency in the newborn
CYP21 gene mutation | CAH
67
Syndactyly especially of the 3rd and 4th fingers is a characteristic feature of which genetic abnormality?
Triploidy Think of this if cfDNA is reported as non-informative or negative with other anomalies similar to T18/13
68
Condition associated eith DHCR7 gene
Smith Lemli Opitz
69
Holt Oram Syndrome genetics, clinical characteristics
Autosomal dominant (variable expression) AKA Heart/Hand syndrome Cardiac- ASD Extremities: Upper limb defects, absent/weird thumbs, narrow shoulders
70
Preterm renal characteristics vs term
Lower GFR Lower urine osmolarity (term 800 mOsm/L vs 500 in preterm) Lower ability to reabsorb Na+ H20 Decreased ability acidify urine
71
Small / narrowing of the foramen magnum is associated with _____.
Achondroplasia AD Fibroblast growth factor receptor 3 gene Trident hands
72
Transmission from females All offspring of affected females will be affected Male offspring does not pass disease
Mitochondrial
73
Mom transmits to boys and daughters Boys are affected Girls are cariers
X linked recessive
74
More common in females (2x more common than in males) Father passes to girls Father cannot pass to sons Both parents can pass it on
X linked Dominant
75
What is assoc’d with fibroblast growth factor 3? What is assoc’d with fibroblast growth factor 2?
FGF3 - thanatrophic. Achondroplasia FGF2 - Apert, Crouzon, Pfeiffer
76
Neonates hypotonia cardiomegaly and macroglossia. What is elevated in these neonates?
Pompes diseases (alpha glucosidase deficiency) Very high CPK
77
Mitchell-Riley syndrome (MRS)
AR Neonatal diabetes, GI/hepatobiliary anomalies chromosome 6 IUGR, duodenal atresia, neonatal diabetes, pancreatic insufficiency, anemia, hepatic siderosis, and biliary atresias.
78
Most common mechanism for prader Willi and angelman syndromes
Micro deletion 70% of the paternally inherited chromosome 15 (prader willi ) and maternal for angelman Uniparental disomy 20% Imprinting error <5%
79
Skeletal Dysplasia vs skeletal dysostosis
Dysplasia = abnormal organization during early patterning skeletal development Dysostoses = malformation bc of insult during organogenesis
80
Sotos Syndrome- Genetics
Autosomal Dominant
81
Donohue Syndrome
FGR Dysmorphic Reduced subQ fat Hyperglycemia and hyperinsulinemia Insulin resistance disorder
82
Dilated aorta, arachnodactyly, hyperextensibility, upward lens subluxation. Dx? genetics?
Marfans AD
83
Osteogenesis Imperfecta genetics
AD, defect in type 1 Collagen- COL1A There are 9 types Type 2 most severe from resp failure
84
Genetic Syndromes associated with Nevus flammeus (port wine stain)
Sturge Weber BWS Cobb Kippel-Trenaunay-Weber
85
Mosaic Turner syndrome
10% of turner's Increased risk of gonadoblastoma
86
Risks for CL/CP
Smoking (2x risk) Phenobarbitol Phenytoin (10x risk) Increased risk of AOM/dental decay
87
Club Foot- risk for associated anomalies: 1. Prenatally discovered 2. Postnatally discovered
1. 60% 2. 10%
88
Leigh Syndrome
Mitochondrial disorder Progressive neurodegenerative disease
89
What kind of mutation in CF
Point mutation, introduced by DNA damage- likely DNA polymerase
90
MC congenital anomaly of upper extremity
Syndactyly majority of cases are sporadic, no genetic transmission
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