Genetic Flashcards
(186 cards)
1
Q
elf like facies, intellectual disabilities and idiopathic hyperCa of infanct
A
William Syndrome
2
Q
Heart defect with elf like facies, ID and hypercalcemia in infancy
A
Supravalvular aortic stenosis
3
Q
Heart defect in William syndrome
A
supravalvular aortic stenosis
4
Q
Other findings of sturge weber
A
seizures, choroidal vascular malfomration, cutaneous capillary malformation.
5
Q
PHACE syndrome
A
posterior fossa abnormalities, segemental hemangiomas, arterial anomalies, cardiac anomalies, and eye anomalies
6
Q
What do you worry about with a congnital vascular malformation of the face (around eye)
A
glaucoma
7
Q
Genetic test for PHACE syndrome or Sturge weber
A
somatic mutation of GNAS that leads to capillary malformation
8
Q
Caffey disease
A
infantile cortical hyperostosis
9
Q
mutation for infantile hyperostosis or caffey disease
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COL1A1 single mutation
10
Q
Caffey syndrome characteristics
A
fever, irritability, anorexia, soft tissue swelling with subperiosteal cortical thickening of underlying m=bone
11
Q
fetal hydantoin syndrome
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when mom is taking phenytoin
12
Q
dysmorphic features in infants with mothers taking pheyntoin
A
orofacial clefts, cardiac defects, GI defects, hypertelorism
13
Q
findings for fetal alcohol syndrome
A
IUGR, microcephaly, ocular anomalies, joint anomalies, ID, and short palpebral fissures
14
Q
findings in infants with retinoic acid exposure
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microcephaly, external auditory canal anomalies or micortia, cardiac defects, thymic hypoplasia, facial nerve palsies or GU anomalies
15
Q
presentation of GSD
A
hepatomegaly, FTT, hypoglycemic seizures. No response to glucagon
16
Q
hypoglycemia with urine ketones but no reducing substances
A
GSD
17
Q
hypoglycemia with elevated urine reducing substances and elevated ketones
A
galactosemia
18
Q
Infants with galactosemia are at risk for what infection
A
E coli sepsis
19
Q
Bloom syndrome symptoms
A
congenital telangiectatic erythema. photosensitivity, severe cheilitis, growth deficiency, primary hypogonadism and inc risk neoplasms
20
Q
dysmorphic characteristics blooms syndrome
A
long face with narrow mandible, malar hypoplasia, large protruding ears
21
Q
voice is high pitched and “bird like” with this condition
A
blooms syndrome
22
Q
Features of stickler syndrome
A
midface hypoplasia, micrognathia, cleft palate, glossoptosis, high myopia and risk for retinal detachment
23
Q
what is sweet syndrome
A
acute febrile neutrophilic dermatosis. fever with painful skin lesion on arms, neck, face and back
24
Q
Apert syndrome characteristics
A
craniosynostosis, syndactyly, beaked nose, bulging wide set eyes, under developed upper jaw
25
what tumors are children with beckwith wiedemann syndrome at risk for
wilms tumor and hepatoblastoma
26
what annual screening do children with beckwith wiedemann need?
annual renal US to look for nephrocalcinosis or medullary sponge kidney
abdominal US every 3 months until 4 years of age
27
what tumor is von hippel lindau syndrome assoiated with
pheochromocytoma
28
MEN type 2 is associated with increased risk for what
medullary thyroid carcinoma
29
Findings in NF1
cafe au lait spots (more than 6), axilary or inguinal freckling, lisch nodules (hamartomas of the iris) >2 neurofibromas, osseous lesions of bones or scoliosis.
30
Findings in Tuberous sclerosis
ash leaf macules, adenoma sebaceum, periungal fibroms, shagreen patches
31
heart defect associated with turner syndrome
bicuspid aortic valve
32
what is incontinentia pigmenti
x linked dominant disorder lethal in males
33
systemic manifestations of icontinentia pigmenti
dental changes- pegged teeth, nail changes and alopecia. neovascularization of the retina
34
translucent bluish nonblanching fluctuant sweling lateral to midline of the lower mouth
ranula- anomalous sublingal gland or acquired after trauma
35
What is a bohn nodule
whitish or clear inclusion cysts that appear as rounded papules along the alveolar ridge in newborns
36
What do you need to treat hypophosphatemic rickets
phos and calcitriol
37
Findings of Tuberous sclerosis
benign hamartomas, facial angiofibromas, ash leaf spots, shagreen patch, brownish plaques on forehead. Periungal fibromas, cardiac rhabdomyoma, cortical tubers
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genetic defect of Tuberous sclerosis
autosomal dominant gene defects on chromosome 9q or 16q (TSC1 or TSC2) both responsible for tumor suppression
39
Findings with Peutz- Jegher syndrom
small dark colored spots on lips around and inside mouth. Perianal lentigines.
Polyps in stomach or intestines that can cause obstructions, bleeding and pain
40
Findings of spina bifida
enlarged head circumference, myelomeningocele, club feet and hydrocephalus usually due to chiari type II
41
findings of apert syndrome
mitten hand deformity- fused bones with shared nail bed, severe craniosynostosis, bicoronal synostosis associated with maxillary hypoplasia. midfacial hypoplasia- shallow orbits, hypertelorism
42
Findings of Popliteal pterygium syndrome or Escobar syndrome
extensive pterygiums from knee down to heel with malformed toenails and webbed toes. Dysplasic patella sometimes.
43
Kallman syndrome fnidings
hypogonadotropic hyogonadism. anosmia, cleft lip and or palate, congenital heart disease, renal agenesis
44
inheritance of kallman syndrome
x lined autosomal dominant
45
Skin findings with neuroblastoma
subcutaneous bluish nodules and periorbital ecchymoses associated with proptosis.
46
Urine findings or neuroblastoma
homovanillic and vanillylmandelic acid
47
Prune Belly syndrome triad
undescended testes, GU anomalies, partial hypoplasia of abdominal musculature
48
what is associated with solitary median maxillary central incisor
growth hormone deficiency, sometimes empty sella and pan hypopit
49
What is associated with central incisor
midline defects like cleft lip and palate, midline structures of brain, falx cerebri, choanal atresia, midnasal stenosism pyriform aperture stenosis
50
What does CHARGE syndrome stand for
coloboma of eye, heart defects, atresia of nasal choane, retarded growth, genital and or urinary abnormalities and ear abnormalities or deafness
51
What does VACTERL stand for
vertebral anomalies, anal atresia, CV anomalies, TEF, renal and or radial anomalies, limb defects
52
Findings of Crouzon syndrome
craniosynostosis, midface hypoplasia, proptosis, normal intelligence, normal hands and feet
53
Findings of carpenter syndrome
fusions of multiple sutures, syndactyly, intellectual disability, CHD sometimes, corneal opacities
54
Pfeiffer syndrome findings
bracycephaly, midface hypoplasia, finger/tow abnormalities.
55
What is Sotos syndrome
cerebral gigantism
56
Findings of sotos syndrome
macrocephaly, excessive physical growth in early childhood and intellectual disability.
57
Shwachman-Diamond Syndrome findings
recurrent infections, pancreatic exocrine insufficiency (stinky stools) and neutropenia
58
mutation in Shwachman diamond sndrome
SBDS fene
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What mutations can lead to Kostmann syndrome
HAX1 and ELA2
60
What are findings of Kostmann syndrome
profound neturopenia
61
What condition has autoantibodies against neutrophils
chronic benign neutropenia of childhood
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What mutation is associate with cyclical neutropenia
ELA2
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What is Berger disease
IgA nephropathy
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findings of IgA nephropathy on biopsy
mesangial deposits of the glomerulus and gross hematuria following upper respiatory infections or GI infections
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Findings with Alport syndrome
bilateral sensorineural hearing loss, gross hematuria
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What are C3 levels in IgA nephopathy
normal
67
IgA deficiency are associated with increased risk of what conditions
celiac disease, IBD, hashimoto thyroiditis, JIA, dermatomyositis, SLE, DM type1
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What infection GI wise are those with IgA predisposed for
giardia
69
Cardiac defects seen in CHARGE syndrome
aoritc arch anomalies, right subclavian artery, VSDs, TOF
70
what conditions are associated with subluxation of ocular lens
marfan syndrome ane homocystinuria
71
What heart defect is associated with marfan syndrom
mitral valve prolapse- mid systolic click
72
findings of treacher collin syndrome
mandibulofacial dysostosis. outer and middle ear malformations-- hearing loss. boney hypoplasia, choanal stenosis or atresia, cleft palate with or without cleft lip
palpebral fissues down slanting with hypoplastic lower eyelids and no lower eyelid lashes
73
Urea cycle disorders
carbomyl phosphate synthetase deficiency and Ornithine transcarbamylase deficiency
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Which urea cycle is associated with a low orotic acid
carbomoyl phosphate synthetase
75
What is the acid base disturbance with urea cycle disorder
respiratory alkalosis
76
ammonia level in urea cycle disorder
high high like greater than 1000
77
Metabolic ketoacidosis +/- elevated ammonia with bone marrow depression and cardiomyopathy
propionic acidemia
78
When does medium chain acyl CoA dehydrogenase deficiency present MCAD
around 2 years of age
79
When you have MCAD deficiency, what will your urinary substances and ketones be?
no urinary reducing substances and no ketones
80
Inheritance of fragile X
X linked
81
Signs of fragile X
macrocephaly, low tone, hypotonia, developmental delays, joint hypermobility, large jaw, prominent ears, macro-orchidism
82
What causes fragile X
tirnucleotide repeat in FMR1 gene on X chromosome
83
Karyotype of klinefelters
47XXY
84
dysmorphic features
bitemporal narrowing, almond shaped eyes
85
Inheritance of HCM
autosomal dominant
86
signs of klippel feil syndrome
fusion of more than 2 cervical vertebrae and hypoplastic scapula, double collecting system, horsehoe kidney, low hairline
87
which cyanotic heart condition does not rely on PDA remaining open
TAPVR
88
xray shows radiolucency with thin linear fragment of partially attached subchondral bone in the lateral portion medial femoral condyl
osteochondritis dissecans
89
xray has bone lytic lesion that appears "moth eaten"
ewing sarcoma
90
describe what a coloboma of the eye looks like
keyhole notch like defect affecting iris, ciliary body, retina, choroid and or optic nerve
91
findings with hereditary spherocytosis
elevated serum bilirubin, jaundice, splenomegaly, gallstones
92
SRY encodes for what
sex detemining region Y protein responsible for initiating male sex determination
93
phenotypic female with 46XY, most likely gene that is defected is?
SRY
94
what are the trinucleotide repeats of fragile X
CGG
95
cat like cry mutation
5p deletion for cri du chat
96
what are other signs of cri du chat syndroe
hypotonia, microcephaly, ID, cardiac defects
97
Alagille syndrome
pulmonary stenosis, butterfly vertebrae, triangular shaped face, paucity of bile ducts
98
mutation with alagille syndrome
20p12
99
deletions associated with wilms tumor
11p13 PAX6 and WT1 genes
100
What does WAGR syndrome stand for
wilms tumor, aniridia, GU malformations, reduced intellectual abilities
101
is prader willi deletion of maternal or paternal cop of 15q11-13
paternal
102
when does duchenne muscular dystophy present?
2-6 years of age
103
duchene muscular dystrophy inheritance
x linked recessive
104
Ghent criteria is used for what
used for marfan syndrome
105
what are the criteria for marfan syndrome
ectopia lentis, aortic dilation or dissection, family history. need 2 of the above 3 for marfan syndrome
106
what is aplasia cutis congenita
sharply marcated area on scalp without hair and tense membrane with scaley plaque
107
what is mechanisms of error in patau syndrome trisomy 13
meiotic nondisjunction
108
aplasia cutis congenita is associated with which trisomy
13
109
what condition is associated with vascular injury to right umbilical vein or omphalomesenteric artery in fetus
gastroschisis
110
which abdominal defect is not covered by a membrane
gastroschisis
111
which umbilical defect is associated with other midline defects
omphalocele
112
Inheritance of G6PD
x linked recessive. more common in males
113
What is inheritance of chediak higashi syndrom
autosomal recessive
114
what are characteristics of chediak higashi syndrome
abnomral melanin distribution with fair skin, light hair and light blue eyes.
dense body of platelets with defective granulocytes
115
males with recurrent sinopulmonary infections, no tonsils or lymph nodes and absent IgG, IgA and IgM
x linked agammaglobulinemia
116
ataxia, occulocutaneous telangiectasias and combined immunodeficiency
ataxia-telangiectasia
117
inheritance kostmann syndrome
autosomal recessive HAX1 gene
118
gene affected in rett syndrom
MECP2 on x chromosome
119
small white-gray spots on periphery of iris
brushfield spots- trisomy21
120
anterior wedging of thoracic vertebrae and schmorl nodes noted on xray
scheuermann disease- juvenile kyphosis
121
most common TEF type
esophageal atresia and a distal TEF
122
which two genetic conditions have: short stature, short webbed neck, low set posterior hairline, shield like chest with wide nipples, pectus excavatum, epicanthal folds, increased carrying angles of arms
noonan andturner
123
Noonan syndrome affects what sex
both boys and girls
124
heart defect in noonan syndrome
dysplastic pulmonary valve and pulmonary stenosis
125
mutation with kallman syndrome
ANOS1 at Xp22.3
126
mutation with noonan syndrome
deletion chromosome 12q
127
inheritance of wiskott aldrich
x linked recessive
128
signs of wiskott aldrich
atopic dermatitis, thrombocytopenia, recurrent infections with encapsulated bacteria
129
Ig levels in wiskott aldrich
low IgM and increased IgA and IgE
130
G6PD finding on peripheral smear
heinz bodies- inclusions in RBCs
131
Gene mutation that causes NF2
Merlin on chromosome 22
132
Findings of NF2
bilateral acoustic neuromas, retinal hamartomas, meningiomas, cranial and peripheral nerve schwannomas
133
Gene mutation fo NF1
mutation for gene encoding neurofibromin on chromosome 17
134
Findings in NF1
cafe au lait spots, axillary or inguinal freckling, lisch nodules in the iris, neurofibromas.
135
pheochromocytoma, malignant peripheral nerve sheath tumor, AML, and optic gliomas are seen sometimes with what genetic syndrome
NF1
136
LGA infant with omphalocele- what electolyte abnormality do you suspect
hypoglycemia (beckwith wiedemann)
137
what gene is affected in beckwith wiedemann
IGF-2
138
Triad of Mccune Albright Syndrome
precocious isosexual puberty, cafe au lait skin lesions, fibrous dysplasia of the bones unilaterally
139
characteristics Fetal alcohol syndrome
short palpebral fissures, smooth and thin philtrum, thin vermilion border of upper lip, shortened nose associated with midface hypoplasia, maxillary hypoplasia, micrognathia, ptosis, epicanthal folds
140
what seziure disorder is associated with tuberous sclerosis
infantile spasms
141
inheritance of hemophilia A and B
x linked recessive= males affected more
142
what factor deficiency is hemophilia a
8
143
factor deficiency hemophilia B
9
144
alacrima, achalasia and adrenal insufficiency is what disorder
Allgrove syndrome
145
Werdnig Hoffman disease
SMA type 1
146
what are mirror movements and what condition is associated with this
involuntary movements mirroring contralateral voluntary hand movement- kallman syndrome
147
findings of x linked adrenoleukodystrophy
symptoms that mimic ADHD, difficulty concentrating, decreased academic performance and learning disabilities
148
what builds up with x linked adrenoleukodystrophy
very long chain fatty acids
149
deficiency of galactose 1 phosphate uridyltransferase causes what
galactosemia
150
deficiency of beta-galactosidase
GM1 gangliosidosis- lysosomal storage disorder
151
recurrent bacterial serious infections with encapsulated bacteria as an infant
X linked agammaglobulinemia
152
cafe au lait spots, short stature, absent thumbs and renal anomalies
fanconi anemia
153
oncologic risk of fanconi anemia
acute myelogenous leukemia
154
type of anemia in diamond blackfan
macrocytosis
155
nail patella syndrome characteristics
hypoplastic dysplastic nails, dislocation of patella, UA shows proteinuriaa
156
triphalangeal thumbs
diamond blackfan anemia
157
anemia in diamond blackfan
macrocytic RBC with reticulocytopenia. Otherwise normal bone marrow
158
Findings of Hurlers Syndrome
coarse facial features, frequent URIs, macrocephaly, hernias and thickened heart valves
159
young infant developmenting slowly with findings of thickened heart valves
Hurler
160
Hepatomegaly, failure to thrive, evidence of rickets, no hypoglycemia
tyrosinemia
161
what builds up in tyrosinemia
succinylacetone
162
acylcarnitine profile diagnoses what
fatty acid oxidation disorders
163
hypoglycemia without urinary reducing substances and no ketones
fatty acid oxidation
164
hypoglycemia with urine ketones. no reducing substances
glycogen storage disease
165
supplementing pyridoxime , you check what level for response?
homocystine
166
physical exam findings with diamond blackfan anemia
webbed neck, triphalangeal thumbs, snubbed nose, hypertelorism and thick upper lip
167
3 month old male starting to regress develops dystonia, choreoathitosis, hyperreflexia was diagnosed with CP. bites himeself and developmentally delayeD
lesch nyhan
168
inheritance lesch nyhan
x linked recessive
169
urate to creatinine ratio helps diagnose what
lesch nyhan
170
“Greek warrior” helmet nose, high anterior hairline with prominent glabella, hypertelorism, epicanthus, high-arched eyebrows, downturned mouth, small jaw, and small ears with bilateral ear pits
4- deletion
| wolf hirschhorn syndrome
171
rockerbottom feet
trisomy 18
172
quad screen in trisomy 21
elevated bHCG and elevate inhibin A
| decreased AFP and Estriol
173
quad screen in trisomy 18
everything is low
174
quad screen abnormality for neural tube defect or gastroschisis
elevated AFP. all else is normal
175
test to diagnose primary ciliary dyskinesia
exhaled nasal nitric oxide
176
name the fatty acid oxidation disorders
carnintine palmitoyltrasnferase I and II deficiency, medium chain acyl CoA dehydrogenase def, short chain, very long chain
177
mutation causing achondroplasia
fibroplast growth factor 3 FGRF3
178
inheritance achondroplasia
autosomal dominant
179
developmental disorder of achrondroplasia
gross motor
180
infants with heterotaxy syndrome are at increased risk for what?
midgut volvulus or malrotation
181
intellectual capability with Klinefelters
normal
182
common extrarenal manifestaion ADPKD
cerebral aneurysm
183
what enzyme is reduced in Hurler Syndrome
alpha L iduronidase
184
what enzyme is reduced in Hunter Syndrome
iduronate sulfatase enzyme
185
hepatosplenomegaly, bone pain and easy bruising and short stature
Gaucher disease
186
factor deficiency in noonan
Factor 11.
| bleeding and thrombocytopenia seen
