Panic Study Questions

Front 1

______ is seen in LCHAD but not in MCAD

Back 1

Myopathy

Front 2

Uric acidemia is typical of _________

Back 2

Lesch-Nyhan disease

Front 3

High gamma-aminolevulinic acid is typically seen in _______

Back 3

Acute Intermittent Porphyria

Front 4

Elevated levels of long-chain fatty acids are typically seen in ______

Back 4

X-linked adrenoleukodystrophy

Front 5

Low cholesterol levels are typically seen in _______

Back 5

Smith-Lemli-Opitz

Front 6

High ammonia levels are typically seen in _______

Back 6

OTC deficiency

Front 7

In __________, we would not expect to see liver failure

Back 7

propionic acidemia

Front 8

You would NOT expect hypoketotic hypoglycemia in ______

Back 8

SCAD

Front 9

Expanded NBS by tandem-mass spectrometry is not helpful in identifying _________

Back 9

Lysosomal storage disorders

Front 10

Liver disease is LEAST likely to be presenting feature of _________

Back 10

Homocystinuria

Front 11

Cataracts are typically seen in ___________

Back 11

Galactosemia

Front 12

Kidney stones are most likely to be seen with ______

Back 12

Cystinuria

Front 13

The BEST current treatment for OTC deficiency is _________

Back 13

Sodium benzoate and phenylacetate

Front 14

The BEST current treatment for XL Adrenoleukodystrophy is _________

Back 14

Bone marrow transplant

Front 15

____________ is associated with an increased risk for infection in the neonatal period

Back 15

Galactosemia

Front 16

Primary respiratory alkalosis is classically associated with higher ammonia levels that occur in patients with _____________

Back 16

Urea cycle defects

Front 17

________ are NOT associated with abnormal ammonia levels

Back 17

Lysosomal storage disorders

Front 18

Kinky hair is associated with ___________

Back 18

Argininosuccinic aciduria

Front 19

_______ is most commonly associated with metabolic liver disease

Back 19

Renal Fanconi syndrome

Front 20

Pulmonary embolism is most commonly associated with _________

Back 20

Homocystinuria

Front 21

______ is the toxic compound in MSUD

Back 21

Leucine

Front 22

______ is the toxic compound in hepatorenal tyrosinemia

Back 22

Succinylacetone

Front 23

________ is NOT associated with rhabdomyolysis

Back 23

GSD I aka von Gierke disease

Front 24

______ is a urea cycle defect that is not typically associated with an acute hyperammonemic crisis

Back 24

Arginase deficiency

Front 25

In a newborn with an organic acidemia, you would expect to see ______

Back 25

ketosis

Front 26

______ is typically NOT seen in tyrosinemia type 1

Back 26

Thromboembolism

Front 27

Typical features of _______ include Renal Fanconi syndrome, neurologic crises, liver dysfunction, and hypophosphatemic rickets

Back 27

tyrosinemia type 1

Front 28

A 6m old presents with macrocephaly, MRI reveals fluid accumulation anterior to the frontal and temporal lobest. ______ is the most likely diagnosis.

Back 28

Glutaric acidemia

Front 29

Progressive liver disease is associated with ______

Back 29

argininosuccinic acid lyase deficiency

Front 30

Acute crises with significant ketosis is MOST likely to be seen with _____

Back 30

SCAD

Front 31

A pregnant woman develops acute fatty liver of pregnancy. The most likely fatty acid oxidation defect in the fetus would be ______.

Back 31

LCHAD

Front 32

_______ is inherited in an autosomal recessive pattern.

Back 32

mtDNA depletion

Front 33

Most cases of _______ have severe, lethal neonatal lactic acidosis with or without multiple congenital anomalies.

Back 33

pyruvate dehydrogenase complex deficiency

Front 34

______ is commonly present in LCHAD but absent in MCAD.

Back 34

Myopathy

Front 35

Hypoglycemia, myopathy, and cardiomyopathy are all present in ______

Back 35

LCHAD

Front 36

________ both involve tissues with high energy requirements, and thus are most expected to occur as a result of mitochondrial disease.

Back 36

Diabetes and renal tubular acidosis

Front 37

Neonatal liver failure and encephalopathy are most consistent with ______

Back 37

mtDNA depletion syndrome

Front 38

Migraine and multiple strokes or stroke-like episodes is most consistent with ______

Back 38

MELAS

Front 39

Cardiac conduction defects, ocular myopathy, and ataxia is most consistent with ______

Back 39

Kearns-Sayre

Front 40

Respiratory dysfunction and cranial nerve abnormalities are most consistent with ______

Back 40

Leigh disease

Front 41

Progressive epilepsy and dementia are hallmarks of ______

Back 41

MERRF

Front 42

______ can lead to secondary mtDNA abnormalities, including depletion and multiple deletions

Back 42

MNGIE

Front 43

Homoplasmic mtDNA mutations are the cause of ______

Back 43

LHON

Front 44

Moderate and high levels of T8993G or C heteroplasmy generally cause _____

Back 44

MILS and NARP

Front 45

The most common clinical presentation of the A3243G mutation is ______

Back 45

diabetes

Front 46

_____ is an assembly protein in which mutations should be considered in infants with Leigh disease and a deficiency of complex 4

Back 46

SURF1

Front 47

Elevated CSF protein is most typically found in ______

Back 47

Kearns-Sayre

Front 48

Cyclic-vomiting syndrome demonstrates ______ inheritance in a substantial proportion of cases

Back 48

maternal

Front 49

______ mutations can lead to a wide variety of phenotypes, including SANDO, PEO, male sub-fertility, POF in women, and a wide variety of muscle and brain disorders

Back 49

Gamma polymerase

Front 50

There are NO well-defined screening guidelines for ______, and these individuals will develop many cancers

Back 50

Li-Fraumeni

Front 51

Characteristic presentation of Lynch syndrome would most likely have ______

Back 51

15 adenomatous polyps

Front 52

Homozygous loss of ______ leads to a high risk for developing colon cancer at very early ages, as well as brain tumors and other malignancies

Back 52

PMS2

Front 53

______ is caused by mutations in the STK11 gene

Back 53

Peutz-Jeghers

Front 54

The polyps in juvenile polyposis are most often ______

Back 54

hamartomatous

Front 55

______ is a rare cancer syndrome that is AR-inherited

Back 55

MYH polyposis

Front 56

______ is caused by APC (2/3) or a MMR gene (1/3)

Back 56

Turcot

Front 57

Trichilemomma is highly suggestive of _________

Back 57

Cowden syndrome

Front 58

Individuals with ______ require upper endoscopic screening

Back 58

FAP

Front 59

______ is imprinted; it causes many pheos and paras when inherited from the father

Back 59

SDHD

Front 60

______ can present with spontaneous pneumothorax and fibrofolliculoma; due to mutations in the FLCN gene

Back 60

Birt-Hogg-Dube

Front 61

Close to 100% of patients with MEN1 have ______ by age 40

Back 61

hyperparathyroidism

Front 62

Patients with ______ can have similar dysmorphic features to patients with Marfan.

Back 62

MEN2B

Front 63

Sensitivity for genetic testing for ______ approaches 100%

Back 63

von Hippel Lindau

Front 64

A woman comes to see you because she has a niece who was diagnosed with a metabolic condition with recurrent vomiting, seizures and smells like 'sweaty feet'. The best option for carrier testing would be ______

Back 64

isovaleric acidemia

Front 65

Gastrointestinal issues are NOT a part of ______

Back 65

Kearns-Sayre syndrome

Front 66

Maternally-inherited mitochondrial disorders are commonly multifactorial, which is most effectively illustrated by ______

Back 66

Autism spectrum disorders

Front 67

A 2-month-old male presents in the ER with difficulty breathing, hemi-facial paralysis, movement disturbances, and possible seizures. The most likely diagnosis is ______

Back 67

Leigh disease

Front 68

An infant has a history of poor feeding, severe lethargy, vomiting and seizures, with significant lactic acidosis and bilateral renal cysts. The likely diagnosis is ______

Back 68

Pyruvate dehydrogenase complex deficiency

Front 69

______ can demonstrate inheritance through imprinting

Back 69

Niemann-Pick

Front 70

Which form of MPS does not have neurological involvement?

Back 70

MPS VI (Maroteaux-Lamy)

Front 71

A newborn male resents with severe lactic acidosis and congenital malformations of the brain and kidneys. A maternal half-brother died of a very similar illness. The most likely diagnosis is ______

Back 71

pyruvate dehydrogenase complex deficiency

Front 72

Two sisters are affected with cataracts in infancy, MR, microcephaly, nystagmus, and moderate growth deficiency. The most likely diagnosis is ______

Back 72

Marinesco-Sjogren syndrome

Front 73

Hallervorden-Spatz disease is associated with basal ganglia accumulation of ______

Back 73

iron

Front 74

Individuals with CADASIL are at risk for ______

Back 74

multiple strokes

Front 75

Dominantly inherited epilepsy tends to be associated with ______

Back 75

ion channel gene mutations

Front 76

Mutations in the synuclein gene are most likely to result in ______

Back 76

tremor

Front 77

Patients with basal cell nevus syndrome (Gorlin) are most likely to develop which of the following brain tumors?

Back 77

Medulloblastoma

Front 78

A quadruplet repeat expansion is associated with ______

Back 78

myotonic dystrophy

Front 79

NOTCH3 gene mutations cause ______

Back 79

strokes (CADASIL)

Front 80

______ presents with absent tearing

Back 80

Familial dysautonomia

Front 81

Your patient is suspected to have Beckwith-Wiedemann syndrome. Family history is negative. What is your testing strategy to confirm this diagnosis?

Back 81

Methylation analysis -> CDKN1C sequencing -> karyotype

Front 82

The gene for Beckwith-Wiedemann is located on chromosome ______

Back 82

11

Front 83

Supravalvar aortic stenosis is most commonly found in ______

Back 83

Williams syndrome

Front 84

______ is NOT part of the RAS/MAPK pathway

Back 84

NF2

Front 85

Mutations in ______ cause Pallister-Hall syndrome and Grieg cephalopolysyndactyly

Back 85

GLI3

Front 86

Mutations in ______ cause Cornelia de Lange syndrome

Back 86

NIPBL

Front 87

Mutations in ______ cause Waardenburg type 1

Back 87

PAX3

Front 88

Mutations in ______ cause Kabuki syndrome

Back 88

MLL2

Front 89

Mutations in ______ cause Alagille syndrome

Back 89

JAGGED1

Front 90

Mutations in ______ cause Smith-Lemli-Optiz

Back 90

DHCR7

Front 91

Mutations in ______ cause Albright Hereditary Osteodystrophy

Back 91

GNAS

Front 92

______ is NOT due to mutations in an FGFR gene?

Back 92

Saethre-Chotzen

Front 93

______ causes a syndrome that typically does not include clefting

Back 93

CREBBP

Front 94

An ultrasound finding of bilateral syndactyly involving the 3rd and 4th digit is most likely a sign of ______

Back 94

triploidy

Front 95

______ is not produced by the placenta

Back 95

Unconjugated estriol (uE3)

Front 96

Significantly decreased uE3 is typically associated with ______

Back 96

steroid sulfatase deficiency (STS)

Front 97

Significantly decreased uE3 is typically associated with ______

Back 97

Smith-Lemli-Opitz

Front 98

Significantly decreased uE3 is typically associated with ______

Back 98

adrenal hypoplasia

Front 99

Omphalocele is frequently seen in ______

Back 99

Beckwith-Wiedemann syndrome

Front 100

Echogenic bowel is frequently seen in ______

Back 100

cystic fibrosis

Front 101

Coarctation of the aorta is frequently seen in ______

Back 101

Turner syndrome

Front 102

Tetralogy of Fallot is frequently seen in ______

Back 102

DiGeorge syndrome

Front 103

Holoprosencephaly is frequently seen in ______

Back 103

trisomy 13

Front 104

Dandy-Walker malformation is frequently seen in ______

Back 104

Walker-Warburg syndrome

Front 105

A pregnant woman has an ultrasound that identifies a lumbar myelomengomyelocele in the fetus. The exposure most closely associated with this is ______

Back 105

valproic acid

Front 106

A 30 year old woman with a prior stillbirth has serum screening with low uE3. Which abnormalities in the stillborn child would be most helpful in establishing a diagnosis?

Back 106

short limbs and polydactyly

Front 107

A 12yo girl is referred for a childhood history of bilateral retinoblastoma, which was treated with bilateral external beam radiotherapy. Her risk is highest to develop ______

Back 107

osteosarcoma

Front 108

The DR with microarray for global DD, ID, and/or multiple congenital anomalies is ______

Back 108

15-20%

Front 109

According to ACMG, ______ is NOT an indication to utilize microarray as a first-tier test

Back 109

speech delay

Front 110

The sum of the size of the runs of homozygosity divided by the total autosomal genomic length approximately equals ______

Back 110

the % identical by descent

Front 111

A 32yo pt presents to discuss genetic testing for HCM. There is no family history of HCM. The MOST LIKELY explanation for this is ______

Back 111

reduced penetrance

Front 112

A genetic mutation has been found in a family with a history of left ventricular hypertrophy. A mutation in a ______ gene is most likely

Back 112

sarcomere

Front 113

______ can be caused by a mutation in a sarcomere gene

Back 113

HCM

Front 114

A woman presents with a KCNQ1 gene mutation. She is at risk for ______

Back 114

Short/Long QT

Front 115

A 42yo male underwent an endomyocardial biopsy which showed fatty infiltration. He has a family hx of multiple sudden cardiac deaths. The MOST LIKELY responsible condition is ______

Back 115

ARVD

Front 116

Mutations in BMPR2 account for approximately 11-40% of individuals diagnosed with ______

Back 116

idiopathic pulmonary hypertension

Front 117

Mutations in SCN5A are associated with Long QT syndrome and Brugada syndrome. This is an example of ______

Back 117

phenotypic heterogeneity

Front 118

______ is characterized by the muscle that makes up the left ventricle stretching and becoming thinner, eventually spreading to the right ventricle and atria

Back 118

Dilated cardiomyopathy

Front 119

______ is a cardiomyopathy that is generally a genetic disorder, unlikely to be caused by other factors

Back 119

Arrhythmogenic right ventricular dysplasia

Front 120

Mutations in ______ make up the majority of pulmonary arterial hypertension

Back 120

BMPR2

Front 121

______ most closely considers the chance that the genetic test will reveal VUSs, FPs or FN results

Back 121

Clinical validity

Front 122

Mutations in GLA result in ______, which can present with HCM

Back 122

Fabry disease

Front 123

Mutations in MYH7 and MYPBPC3 each make up about 40% of ______

Back 123

HCM

Front 124

Sudden unexpected nocturnal death syndrome (SUNDS) and ______ are considered to be the same disorder

Back 124

Brugada

Front 125

Mutations in ______ make up 15-30% of Brugada syndrome

Back 125

SCN5A

Front 126

______ is characterized by widespread obstruction and obliteration of the smallest pulmonary arteries

Back 126

Pulmonary arterial hypertension

Front 127

The most common symptom of pulmonary arterial hypertension is ______

Back 127

dyspnea

Front 128

Pulmonary arterial hypertension can occur along with ______, particularly with mutations in ACVRL1

Back 128

hereditary hemorrhagic telangiectasia

Front 129

Approximately 5% of individuals with ______ have more than one mutation

Back 129

HCM

Front 130

The V122I mutation for ______ is common in the African-American population

Back 130

familial TTR amyloidosis

Front 131

_____ is the cancer most characteristic of Muir-Torre syndrome

Back 131

Sebaceous carcinoma

Front 132

Desmoid tumors are associated with _______

Back 132

FAP

Front 133

The lifetime risk for breast cancer is 50% in ______

Back 133

Peutz-Jeghers

Front 134

A family history of cancer at a young age in a 7 yo male patient diagnosed with hepatoblastoma is most likely due to a mutation in ______

Back 134

APC

Front 135

_____ is the most likely neurological-associated cancer you would expect with an MSH2 mutation

Back 135

Glioblastoma

Front 136

Lobular breast cancer is characteristic of______

Back 136

hereditary diffuse gastric cancer

Front 137

The breast cancer associated with ______ can occur at an earlier age than that associated with BRCA 1/2

Back 137

Li-Fraumeni syndrome

Front 138

A female patient presents with renal hybrid of oncocytoma and chromophobe renal carcinoma and has a FLCN gene mutation, giving her a diagnosis of ______

Back 138

Birt-Hogg-Dube

Front 139

A 35yo pt presents with a hx of polyposis of the colon, desmoid tumors and osteomas. He has a clinical diagnosis of ______, and should begin colorectal screening as young as 10yo

Back 139

Gardner syndrome

Front 140

A 50yo man with hamartomatous polyps of the small intestine and calcifying sertoli cell tumors of the testes most likely has a mutation in ______

Back 140

STK11

Front 141

A 40yo woman with macrocephaly, coarse facial features, cardiac fibromas, and multiple basal cell carcinoma most likely has a mutation in ______

Back 141

PTCH

Front 142

A 40yo woman with macrocephaly, l'Hermitte-Duclos disease and trichilemmomas and follicular thyroid cancer, who has a son with developmental delay most likely has a mutation in ______

Back 142

PTEN

Front 143

An 18yo man with multiple spinal meningiomas, bilateral vestibular schwannomas and cataracts likely has a mutation in ______

Back 143

NF2

Front 144

Sarcoma, breast, brain, leukemia, and adrenocortical are all cancers common in ______

Back 144

Li Fraumeni

Front 145

_______ thyroid cancer is most associated with FAP

Back 145

Papillary

Front 146

______ thyroid cancer is most associated with MEN2

Back 146

Medullary

Front 147

______ thyroid cancer is most associated with Cowden syndrome

Back 147

Follicular

Front 148

______ results from the activation of an oncogene

Back 148

MEN2

Front 149

______ is related to the development of pheochromocytomas and paragangliomas and is imprinted

Back 149

SDHD

Front 150

______ is not associated with pheochromocytomas

Back 150

MEN1

Front 151

A young child presents with photophobia, dry skin, marked freckling and severe sunburns with blistering. The most likely diagnosis is ______

Back 151

xeroderma pigmentosa

Front 152

A VUS can be found in as high as 20% of African Americans that are tested for ______

Back 152

BRCA 1/2

Front 153

A patient with _______ who has characteristic presentation would most likely have about 15 adenomatous colon polyps

Back 153

Lynch syndrome

Front 154

______ is the most common mechanism by which a Lynch syndrome gene may be somatically altered so it is no longer functional, producing no protein and no staining on IHC

Back 154

Promotor methylation

Front 155

Homozygous loss of ______ leads to a high risk for developing colon cancer at very early ages, as well as brain tumors and other malignancies

Back 155

PMS2

Front 156

Juvenile polyps are most often ______

Back 156

hamartomatous

Front 157

______ is a rare AR-inherited cancer syndrome

Back 157

MYH polyposis

Front 158

______ can be caused by mutations in the MMR repair genes OR in the APC gene

Back 158

Turcot syndrome

Front 159

A family history of cancer in a 7yo male diagnosed with hepatoblastoma is most likely related to a mutation in the ______ gene

Back 159

APC

Front 160

In a family with a history of an MSH2 mutation, the neurologically-associated cancer you would most expect to see would be a ______

Back 160

glioblastoma

Front 161

Lobular breast cancer is a characteristic of _____

Back 161

hereditary diffuse gastric cancer

Front 162

A female pt presents with a renal hybrid of oncocytoma and chromophobe renal carcinoma and is confirmed to carry a mutation in FLCN. She has ______

Back 162

Birt-Hogg-Dube

Front 163

A 35yo pt presents with a hx of polyposis of the colon, desmoid tumors and osteomas. He has a clinical diagnosis of ______, and his children should begin colorectal screening from as young as age 10

Back 163

Gardner syndrome

Front 164

A 50yo man with hamartomatous polyps of the small intestine and calcifying sertoli cell tumors of the testes most likely has a mutation in ______

Back 164

STK11

Front 165

A 40yo woman with macrocephaly, coarse facial features, cardiac fibromas and multiple basal cell carcinoma most likely has a mutation in ______

Back 165

PTCH

Front 166

A woman with macrocephaly, l'Hermitte-Duclos disease and trichilemmomas and follicular thyroid cancer who has a son with developmental delay most likely has a mutation in ______

Back 166

PTEN

Front 167

An 18yo male with multiple spinal meningiomas, bilateral vestibular schwannomas and cataracts most likely has a mutation in ______

Back 167

NF2

Front 168

Sarcoma, breast, brain, leukemia, and adrenocortical tumors are all found in ______

Back 168

Li Fraumeni

Front 169

______ thyroid cancer is associated with MEN2

Back 169

Medullary

Front 170

______ thyroid cancer is associated with Cowden syndrome

Back 170

Follicular

Front 171

_______ thyroid cancer is associated with FAP

Back 171

Papillary

Front 172

_______ results from the activation of an oncogene

Back 172

MEN2

Front 173

_______ gene mutations cause pheochromocytomas and paragangliomas, and is imprinted

Back 173

SDHD

Front 174

______ is not associated with pheochromocytomas

Back 174

MEN1

Front 175

A young child with a history of photophobia, dry skin, marked freckling and severe sunburns with blistering has a most likely diagnosis of ______

Back 175

xeroderma pigmentosa

Front 176

The VUS rate can be as high as 20% for African Americans for ______

Back 176

BRCA 1/2

Front 177

An individual with ______ would have a characteristic presentation of about 15 adenomatous colon polyps

Back 177

Lynch syndrome

Front 178

Homozygous loss of ______ leads to a high risk for developing colon cancer at a very young age, as well as brain tumors and other malignancies

Back 178

PMS2

Front 179

Juvenile polyps are most often ______

Back 179

hamartomatous

Front 180

______ is a rare cancer syndrome that is AR-inherited

Back 180

MYH polyposis

Front 181

______ can be caused by mutations in either the Lynch syndrome or the APC genes

Back 181

Turcot syndrome

Front 182

Sebaceous carcinoma is most characteristic of ______

Back 182

Muir-Torre syndrome

Front 183

Desmoid tumors are associated with ______

Back 183

FAP

Front 184

Mutations in SCN5A are associated with Long QT and Brugada syndromes. This is an example of ______

Back 184

phenotypic heterogeneity

Front 185

______ is characterized by the muscle that makes up the left ventricle stretching and becoming thinner, eventually spreading to the right ventricle and atria

Back 185

Dilated cardiomyopathy

Front 186

______ is generally a genetic disorder, unlikely to be caused by other factors

Back 186

Arrhythmogenic right ventricular dysplasia

Front 187

Mutations in ______ make up the majority of pulmonary arterial hypertension

Back 187

BMPR2

Front 188

______ most closely considers the chance that the genetic test will reveal variants of unknown significance, false-positive, or false-negative results

Back 188

Clinical validity

Front 189

Mutations in GLA result in ______, which can present with HCM

Back 189

Fabry

Front 190

Mutations in MYH7 and MYBPC3 each make up about 40% of ______

Back 190

HCM

Front 191

Sudden unexpected nocturnal death syndrome (SUNDS) and ______ are considered to be the same disorder

Back 191

Brugada syndrome

Front 192

Mutations in ______ make up 15-30% of Brugada syndrome, the greatest proportion compared to any other known gene

Back 192

SCN5A

Front 193

______ is characterized by widespread obstruction and obliteration of the smallest pulmonary arteries

Back 193

Pulmonary arterial hypertension

Front 194

The most common symptom of pulmonary arterial hypertension is ______

Back 194

dyspnea

Front 195

Pulmonary arterial hypertension can occur along with hereditary hemorrhagic telangiectasia, particularly with mutations in ______

Back 195

ACVRL1

Front 196

______ is characterized by progressive fibrofatty replacement of the myocardium, predisposing to ventricular tachycardia and sudden death

Back 196

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)

Front 197

______ is characterized by cardiac electrical instability triggered by acute activation of the adrenergic nervous system

Back 197

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

Front 198

The V122I mutation in African-Americans is common in ______

Back 198

familial TTR amyloidosis

Front 199

A patient presents with a family history of sudden cardiac death, and a gene mutation in ______. Her family has HCM

Back 199

MYH7

Front 200

______ can be caused by a mutation in a sarcomere gene

Back 200

HCM

Front 201

42yo male pt who underwent cardiac biopsy which demonstrated fatty infiltration. Family hx of multiple family members with sudden cardiac death. The MOST LIKELY diagnosis is ______

Back 201

ARVD

Front 202

The ______ gene accounts for approximately 11-40% of individuals diagnosed with idopathic pulmonary hypertension

Back 202

BMPR2

Front 203

______ is a measure of linkage

Back 203

LOD score

Front 204

______ exposure can lead to CP, NTD, and thyroid/renal/neuromuscular toxicity

Back 204

Lithium

Front 205

______ exposure can lead to a 40% risk for SAB if early in pregnancy. 35% have a specific pattern of birth defects: hydrocephalus, ear malformations, micophthalmia, CL/P, thymus agensis, cardiovascular defects, MR

Back 205

Retinoic acid (isotretinoin)

Front 206

______ exposure in the first month of pregnancy causes a 1-2% risk for ONTD. Related syndrome includes facial dysmorphism, limb/heart defects, MR, and IUGR

Back 206

Valproic acid

Front 207

______ exposure in early pregnancy has risk for: calcific stippling of epiphises, nasal hypoplasia, broad short hands, shortened phalanges, IUGR, DD, eye defects, hearing loss

Back 207

Warfarin

Front 208

______ exposure early in pregnancy has up to a 20% risk for: missing/shortened limbs, microtia, deafness, heart defects, micropthalmia, MR, IUGR, GI/kidney abnormalities; one of the first drugs known to cause birth defects in humans

Back 208

Thalidomide

Front 209

High-pitched cry, MR, round face, hypertelorism, micrognathia; del5p15 (sporadic)

Back 209

Cri du chat

Front 210

'Greek warrior helmet' head, MR, CL/P; del4p16.3 (sporadic)

Back 210

Wolf-Hirschhorn

Front 211

CHD (truncal), palatal abnormalities, VPI, CL/P, immunodeficiency, hypocalcemia; del22q11 (7% AD, 93% sporadic)

Back 211

DiGeorge

Front 212

aortic stenosis (75%), MR, wide smile, full lips, hoarse voice, overly friendly; del7q11.2 (ELN gene - AD)

Back 212

Williams

Front 213

'tented' upper lip, MR, sleep disturbances, self-hugging, 'lick and flip', self-injurious; del17p11.2 (RAI1 gene - de novo)

Back 213

Smith-Magenis

Front 214

Large ears, bulbous nose, long upper lip, sparse scalp hair, winged scapulae, multiple exostoses, redundant skin, MR; del8q24.11-13 (TRPS1/EXT1 - de novo)

Back 214

Langer-Gideon

Front 215

Wilms tumor, Aniridia, Genitourinary abnormalities, Mental Retardation; del11p13 (WT1/PAX6 - AD)

Back 215

WAGR

Front 216

Hyperbilirubinemia, butterfly vertebrae, bulbous nose, pointed chin, posterior embryotoxin; del20p13 (JAG1 - AD, 50-70% de novo)

Back 216

Alagille

Front 217

Overlap with Prader-Willi; most common terminal deletion syndrome; hypotonia, DD, growth retardation, obesity, clefting, SNHL, cardiac defects (AD)

Back 217

1p36 deletion

Front 218

infantile hypotonia, profound DD, minor dysmorphic features (AD)

Back 218

22q13

Front 219

Lissencephaly, furrowed forehead, prominent upper lip with thin vermillion, agenesis of corpus callosum (90%), brain calcifications, MR; del17p13.3 (LIS1 - AD)

Back 219

Miller Dieker

Front 220

Mild MR, iris coloboma, preauricular tags/pits, anal atresia, downslanting palpebral fissures; dup22q11

Back 220

Cat eye syndrome

Front 221

46,XY karyotype with feminization, abnormal secondary sexual development in puberty, infertility, normal testes, normal testosterone; Xq11 (XL)

Back 221

Androgen insensitivity syndrome

Front 222

Classic: 25% virilizing only, 75% salt wasting, weight loss, FTT, vomiting, adrenal crisis; CYP21A2 (AR)

Back 222

Congenital adrenal hyperplasia

Front 223

Hypogonadism, anosmia, micropenis, gynecomastia, mirror hand movements; KAL1 (XL)

Back 223

Kallman

Front 224

Genetic males with ambiguous genitalia, no uterus or fallopian tubes but male parts intact; SRD5A2 (AR, sex limited)

Back 224

5-alpha reductase deficiency