LSU Neonatology study set > Genetics > Flashcards

Genetics Flashcards

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1
Q

Choanal atresia with ear anomalies

A

CHARGE
Coloboma
Heart defect
Choanal atresia
Renal anomalies / growth restriction
Genital hypoplasia
Ear anomalies

You need 4 major criteria or 3/3 major/minor

Major are colobloma, choanal atresia, canola nerve problem, ear anomalies.

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2
Q

VACTERL

A

Vertebral anomalies
Anal atresia
Cardiac (vsd, tof, coa)
TEF (esophageal atresia)
Renal anomaly (single umbilical artery)
Limb dysplasia (radial )

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3
Q

Inheritance of trisomy 21

A

95% non disjunction
3-4 % unbalance translocation between 21 and 14, only 25% of these are familial
Only 1-2% are mosaic

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4
Q

Ashleaf
CNS tumors
Seizures
Enamel pits in teeth
Cardiac rhabdomyomas
Angiofibromas
Autosomal dominant

A

Tuberous sclerosis

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5
Q

Cafe aulait spots
Axillarg freckling
Macrocephaly, aquaductal stenosis
Cutaneous neurofibromas , schwanoma, pheochromosytomas
Autosomal dominant

A

Neurofibromatosis

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6
Q

Hypertelorism
FGF2
Boras distal phalanxes of thumb and big toe , Syndactyly
Irregular craniosysnostosis
Vsd /PS
Mental deficiency

A

Apert syndrome

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7
Q

AD
fGF2
Maxillary hypoplasia
Parrot-beak nose
Premature craniosynostosis
Mental deficiency less common

A

Crouzon syndrome

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8
Q

MD William D WARP

A

pneumonic for micro deletion syndromes

MD = micro-deletions
Williams syndrome = 7q11
DiGeorge = 22q11
WAGR = 11p13
Angelman = 15q11 (loss of maternal)
Rubenstein-Taybi syndrome = 16p13
Prader willi= 15q11 ( loss of paternal)

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9
Q

second to Down syndrome to cause mental deficiency

X linked dominant

trinucleotide repeat of CGG, more than 50 repeats causes the disease but need more than 200 for full disease

the more repeats the more expression

80% penetrance for males, 30% for females

macrocephaly, big ears, long narrow face , hyperextended joints

A

fragile x

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10
Q

conformational disorders

A

disorders that result from misfiled proteins

the bad protein either gets broken down and you get disease from lack of that protein or it builds up and you get disease from its buildup

examples:
CF, PKU, alpha 1 antitrypsin, gaucher

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11
Q

campytoactyly, thick lips, deep-set eyes, cupped ears

A

trisomy 8

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12
Q

normal tissue that has been made abnormal by extrinsic forces

A

deformation

like arthrogryposis or clubbed foot

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13
Q

abnormal tissue formation- inherently wrong

A

malformation

can be major or minor
like polydactyly or syndactyly

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14
Q

breakdown of normal tissue, during what would have been normal development

A

disruption

like amniotic bands

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15
Q

abnormal organization of cellular formation into tissue

A

dysplasia

like hemangiomas

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16
Q

FGFr3

A

thanatophoric dysplasia

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17
Q

curved long bones
flat vertebral bodies
cloverleaf sj=kull
respiratory failure
narrow thoraces

A

thanatophoric dysplasia

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18
Q

COL1A

A

osteogenesis imperfecta

1=I

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19
Q

type 2 is lethal

other types: bone fragility, ligamentous laxity, hernias, scoliosis, hearing loss , blue sclera

A

OI

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20
Q

COL2A

A

Stickler syndrome

S looks like a 2

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21
Q

midface hypoplasia, micrognathia, joint hypermobility, widened epiphysis , cleft palate, Pierre-robin, hearing loss, myopia, retinal detachment , cataracts

A

stickler syndrome

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22
Q

EVC1, 2

A

Ellis-van creveled syndrome

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23
Q

narrow thorax, short ribs, post-axial polydactyly , fusion of the metacarpal and phalanges, pelvic dysplasia, CHD , hypo plastic nails

A

ellis- van reveled snd EVC1,2

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24
Q

IFT80

A

jeune syndrome

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25
thoracic dysplasia narrow throat, short ribs , respiratory insufficiency , post axial polydactally, short middle and distal phalanges, cone-shaped epiphyses , progressive renal disease and pancreatic and hepatic fibrosis, hirchsprung, hydrocephalus
jeune syndrome
26
cardiac defects, upper limb defects , abnormal thumbs or absent thumbs, harrow shoulders and hypertelorism
holt-oram AD D think of a bouncer saying holt and putting hand on chest - holt , heart defect and arm problems
27
wide spaced teeth, large mouth , protruding tongue, decrease iris pigment, mental deficiency, ataxia, jerky movements puppet
angelman
28
almond eyes undescended testes hypotonia obesity breech positioned din utero
prader-willi
29
cardiac defects, broad thumbs and toes, down slanting palpebral fissures, hypoplastic maxilla, hirsutism
rubenstein-taybi
30
SNoW DRoP
souther blot = DNA northern blot= RNA western blot = proteins
31
two syndromes with overlap that would need a FISH to distinguish
CHARGE/ Di George ordinarily DiGeorge would have a key feature of low calcium and T cells however this can also be seen with CHARGE. So if given both option hard to clinically tell the difference without testing
32
diseases linked with advanced PATERNAL age
achondroplasia apert syndrome crouzon syndrome NF 1 OI Pfeiffer syndrome retinoblastoma thanatophoric dysplasia
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CATCH 22
DiGeorge Cardiac, abnormal facies, thymic aplasia, cleft palat, hypocalcemia , 22q11
34
low serum cholesterol , elevated 7-dehydrocholesterol level. 2nd 3rd toe syndactyly facial anomalies - anteverted nostrils genital abnormalities- lack of masculinization mental deficiency failure to thrive
smith-limli-opitz AR
35
triploidy inherited from the father is associated with
large placentas , resembling hydatidform mole
36
Cystic fibrosis
point mutation at the CFTR gene, that would be caused by the DNA polymerase who is responsible for copying DNA Most common single gene disorder in white ppl
37
hypotonia and poor feeding add continued central hypotonia, micropenis and large nose
Prader willi remember it is from the destruction of the paternally derived gene meaning it can happen from : uniparental disomy, deletion, epigenetic silencing or paternal inheritance
38
refractory seizures, bilateral basal ganglia lesions, hypotonic , thin curly eyelashes
Leigh syndrome mitochondrial disorder with progressive neurodegenerative disease
39
defect in ---- leads to black of recruitment of a RNA polymerase for gene
promotor
40
defect in --- may lead to excited transcription of an unwanted gene or the opposite ; leading to dissregulated gene expression
enhancer
41
mosaic turner syndrome patients are more likely to have ----
gonadoblastoma
42
club foot pearls
1. if diagnosed prenatally 66% will have another anomaly ( if diagnosed on exam then 10%) 2. if bilaterally another cause like spina bifida should be looked at 3. if anything else is abnormal karyotype should be sent
43
how does cell free DNA exist
continuous turnover of villous trophoblasts results in shedding of material containing cell free DNA into maternal circulation , it comes from the placenta women with pre-e will have high levels of cell free DNA
44
things that can cause a blueberry muffin rash
TORCH neoplasms, abo inccompat/ TTTS/ fetal hemorrhage vascular anomalies
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difference between a syndrome and association
syndromes are usually linked to a genetic cause, have a low risk of reoccurrence and have normal development associations do not have a known genetic cause, high risk of recurrence and developmental disabilities
46
advanced paternal age
increased new mutations- AD ones too achondroplasia Apert syndrome crouzon snydrome OI thanatrophoric dysplasia (slight increase with kleinfelter and T21)
47
higher occurrence in males
RDS/ laryngomalacia pyloric stenosis, hirschprung, imperforate anus multi cystic dysplastic kidney clef lip most heart defects
48
higher occurrence in females
choanal atresia choledochal cysts congenital hip dysplasia ureterocele hemangioma trisomy 18 ASD/ PDA anencephaly hypothyroidism
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usually mosaic flexion of proximal interphalangeal joint (camptodactyly) thick lips , deepset eyes, cupped ears hip anomalies mental deficiency
trisomy 8
50
middling abnormalaities narrow hyper convex fingernails ( pretty nails) cleft lip/palate small eyes holoprosencephaly persistence of fetal hemoglobin cutis aplasia vsd 95% spontaneous abort
trisomy 13 maternal origin of extra chromosome
51
more common females low beta hcg, low estriol, low afp small mouth and eyes hypoplastic nails overlapping fingers vidd rocker bottom feet
trisomy 18 better survival than 13
52
clinodactyly ( bent pinky finger) singlar palmar crease endocardial cushion defect upslanting pa;pebral fissures brush field spots pelvic dysplasia myloproliferative disorder alzheimers
t21
53
deletion 5 p vsd / pda/ TOF transverse palmar crease hypertelorism, down palpebral fissures microcephaly, hypotonia failure to thrive cat-like cry
cri du chat
54
thumb hypoplasia, clinodactyly coloboma, increased risk retinoblastoma microcephaly high nasal bridge hypospadias
deletion 13q similar to charge but without the ear anomalies/choanal atresia and add extremity problems
55
"greek warrior helmet" high forehead, beaked nose, lowset and simple ear with dimple supraorbital bridge is continuous with nasal bridge cranial asymmetry severe cognitive defects
wolf-hsirschhorn syndrome deletion 4 p
56
wide spaced teeth large mouth protruding tongue lack of iris color and blonde hair lack of speech or only 6 words jerky movements seizures loss of maternal
angelman 15q11
57
CATCH22
cardiac abnormal facies thyme hypplasia cleft palate hypocalcemia 22q11
58
DiGeorge is due to what
defects in 4th brachial arch and 3+4 pharyngeal pouches
59
small hands and feet undescended testes hypotonia obesity breech almond shaped eyes , thin lip and light hair and eye color
praider-willi
60
testing for praider willi
methylation study will find the defect but won't tell you why chromosome analysis will show a translocation FISH if not then uniparental disomy if not then imprinting mutation
61
16p broad thumbs broad first toes clinodactyly downward palpebral fissures hyoplastic maxilla narrow palate beaked nose eye problems
Rubenstein-taybi
62
wilms tumor aniridia GU anomalies mental retardation
WAGR 11p13
63
elastin gene 7q11 supravalvular sub aortic stenosis > PPS hypoplastic nails prominent lips hoarse voice stellate iris
williams syndrome
64
increased paternal age FGFr3 trident hands, short limbs depressed nasal bridge, prominent forehead and frontal bossing megalocephaly caudal narrowing of spinal cord normal intelligence abnormal vertebrae , flattened vertebral bodies
Achondroplasia AD
65
macroglossia earlobe fissures omphalocele organ enlargement intraabdominal malignancies hypoglycemia normal cognitive ability Can have port wine stains
beckwith weidemann Most are uniparental disomy or methylation problems = imprinting but can be AD 11p15
66
ASD upper limb defects, absent of hypoplastic thumb, narrow shoulders
holt-oram syndrom picture a bouncer saying holt
67
AD dysplastic pulmonary valve webbed neck cryptorchidism mental deficiency abnormalities in coagulation
Noonan syndrome
68
OI pearls
type 2 is most severe with usually being stillbirth or death soon after due to respiratory failure type 3 also noted at birth , blue sclera , abnormal dentation , fractures, macrocephaly type 4 normal eye , increase risk of deformities type 1 blue sclera , bruising, fractures and abnormal teeth AD type 1 collagen
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AD type 2 collagen eye problems- cataracts, retinal detachment, myopia hyperextensible joints flat facies spondyloepiphyseal dysplasia
Stickler syndrome 2 sticks = type 2 collagen
70
FGFr3 short limbs , how'd long bones large head and low nasal bridge, bulging eyes flat vertebrae narrow thorax cloverleaf skull brainstem hypoplasia curved femurs AD
thanatrohporic dysplasia
71
eyelid coloboma downslanting palpebral fissures mandibular hypoplasia dysmorphic ears malar hypoplasia conjunctive hearing loss hypoplastic zygomatic arch normal inteligence AD
teacher collins
72
low cholesterol levels syndactyly genital abnormalities hypotonic anteverted nostrils
smith lemli opitz Ar
73
thrombocytopenia eosiniohilia bilaterally absent radii - thumbs present ulnar abnormalities cardiac - TOF
TAR Ar TAR-CAR
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pancytopenia radial and thumb hypoplasia increased risk of leukemia
falconi syndrome Ar
75
CDH ++++ neurological malformations like dandy-walker, agenesis of corpus callous eye problems, facial defects cystic hygroma
Fryns syndrome
76
fragile x pearls
AD CGG repeat numbers = disease severity large testes mental deficiency MCC of inherited 30 % penetrance in females
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progressive neurological deterioration triwisted hair wormian bones
Menkes Xr Coper deficiency
78
long arms hypogonadism , gynecomastia, infertility behavior difficulty increased risk of germ cell tumors
XXY treat with testosterone
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turner pearls
50% are Xo 40 % are mosaic with either having X0 or Xy if they have xy they are increased risk of gonadoblastoma most spontaneously abort gonadal dysgenesis - streaky gonads horseshoe kidney
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CHARGE
Coloboma Heart defect A- Choanal Atresia Retarded growth GU anomalies Ear anomalies
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major criteria for CHARGE
ear anomalies cranial nerve abnormalities coloboma choanal atresia or stenosis
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TAPVR down slanting palpebral, micrognathia anala atresia coloboma
cat-eye syndrome 22q11, extra ( digorge is a deletion) George- the cat `
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facial palsy including eyes and face muscles (CN 6+7) lim defects chest muscle defects
mobius sequence
84
VSD lateral extension of the corner of the mouth microtia ear tags small eyes deafness hemivertebrae renal abnormalities
goldenhar syndrome aculo-auriculo-vertebral spectrum
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cervical spine/back problems short neck, limited movement of the head deafness abnormal cervical vertebrae sprengel deformity
klippel-fiel sequence
86
asymmetric limb hypertrophy + vascular lesions
klippel-trenaunay weber syndrome
87
unilateral hypoplasia of the pectorals muscle with limb abnormalities on the same side dextrocardia rib abnormalities thought to be due to subclavian disruption
Poland sequence
88
triangular facies short stature asymmetry of skeleton clinodactyly cafe au lait spots hypoglycemia excess sweating
Russell-silver chromosome 7
89
VACTRL association pearls
increased risk with diabetic mothers associated with hydrocephalus some with fanconi anemia some will be diagnosed as something else later in life
90
VACTRL
vertebral anomalies anorectal malformations cardiac TE fistula Renal anomalies limb anomalies - upper limb
91
workup for VACTRL
CXR (vertebral/cardiac/ TEF) echo (cardiac problems) renal US (kidney problems) spine US and CR (vertebral and spinal anomalies) HUS (look for hydrocephalus) eye exam CBC (eval -pancytopenia 0 chromosomes/microarray chromosome breakage assay (for falconi)
92
associated with cleft palates / lips
CHARGE, DiGeorge, mocked Gruber, Pierre robin, smith lemli opitz, trisomy 13, goldenhar, teacher collins
93
colobomas seen with
cat-eye syndrome charge deletion 13q teacher collins trisomy 13
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95
Unique Types of chromosome abnormalities
Isochromosme = two long arms or two short arms Ring chromosome = loss of a pair of chromosome that leads to the ends joining
96
Balanced translocations can lead to
Trisomy’s in offspring
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