100 Disorders Flashcards
1
Q
Inheritance 1p36.3
A
Sporadic
2
Q
3 major clinical features 1p36.3
A
Neurodev disabilities, characteristic face (straight eyebrows, deep-set eyes), hypotonia
3
Q
Inheritance Aarskog Syndrome
A
XLR
4
Q
3 major clinical features Aarskog Syndrome
A
Dysmorphic Features, Hand abnormalities, GU anomalies
5
Q
Inheritance Achondroplasia
A
AD
6
Q
Gene Achondroplasia
A
FGFR3
7
Q
3 major clinical features Achondroplasia
A
Rhizomelic limb shortening, macrocephaly, trident hands
8
Q
Characteristic Face Achondroplasia
A
Frontal bossing, Midface hypoplasia
9
Q
Inheritance AIP
A
AD
10
Q
3 major clinical features of AIP
A
Acute Attacks: severe neuropathic pain, dark urine, HTN/tachycardia (others!)
11
Q
What can trigger acute attack in AIP
A
Sulfa drugs, EtOH, Hormones, Infections, Surgery, Smoking, Stress
12
Q
Treatment for AIP
A
Hemin (Panhematin)
13
Q
Inheritance Alagille
A
AD
14
Q
5 ‘organ’ systems affected in Alagille
A
Liver, Heart, Eyes, Skeleton, Face
15
Q
4 major clinical features Alagille
A
Bile duct paucity, pulmonic stenosis, posterior embryotoxon, butterfly-shaped vertebrae
16
Q
Inheritance Alpha-1-Antitrypsin Deficiency
A
A-Codominant, AR
17
Q
3 major clinical features Alpha-1-Antitrypsin Deficiency
A
Lung- emphysema, liver- jaundice, skin- panniculitis
18
Q
Inheritance alpha thal
A
Complex!
19
Q
3 major clinical features HbH disease
A
Moderate anemia, hepatosplenomegaly, jaundice
20
Q
3 major clinical features Hb Barts
A
Hydrops fetalis, severe anemia, hepatosplenomegaly
21
Q
3 signs seen in women carrying fetus affected with Hb Barts
A
Preeclampsia, premature delivery, abnormal bleeding
22
Q
Inheritance Alport Syndrome
A
XL (80%), AR (15%), AD (5%)
23
Q
3 major clinical features Alport
A
Kidney disease, SNHL, eye abnormalities
24
Q
Inheritance ALS
A
Most sporadic (or AD, AR, XL)
25
3 major clinical features of ALS
Asymmetric limb weakness, bulbar symptoms, muscle atrophy
26
Inheritance Androgen Insensitivity Syndrome
XLR
27
Features of Complete AIS
Externally female, no uterus, undescended testes, sparse pubic hair
28
Features of Partial AIS
Genitalia can be typical/ambiguous, born with male sex characteristics, often infertile, breast enlargement at puberty
29
Inheritance Angelman Syndrome
Imprinted (loss of maternal copy)
30
Etiologies for Angelman Syndrom
Del mat, pat UPD, loss UBE3A gene
31
3 major features of Angelman Syndrome
Severe ID with speech problems, ataxia gait, happy/excitable/laughter
32
Inheritance Antley-Bixler Syndrome
AR
33
3 major clinical features of Antley-Bixler Syndrome
Ambiguous genitalia, skeletal anomalies, chonanal atresia
34
Signs in pregnant women carrying Antley-Bixler fetus
Mild symptoms: hirsutism, acne, deep voice
35
Antley Bixler Syndrome is due to what enzyme deficiency
Cytochrome P450 Oxidoreductase
36
Inheritance for Ataxia Telangiectasia
AR
37
Hallmark in blood of Ataxia Telangiectasia
Elevated AFP
38
3 major clinical features of A-T
Ataxia (before 5), telangiectasis in eyes and skin, increased risk of leukaemia and lymphoma
39
Inheritance of Ataxia w/ Oculomotor Apraxia
AR
40
3 major clinical features of Ataxia with Oculomotor Apraxia
Ataxia, Oculomotor Apraxia, Neuropathy, Chorea
41
Inheritance of Bardet-Biedl Syndrome
AR
42
3 major features of Bardet-Biedl Syndrom
Vision problems, obesity, ID, genital anomalies and anosmia
43
Inheritance of BMD
xlr
44
3 major clinical features of BMD
Muscle weakness, cardiomyopathy, may live into 40s
45
Inheritance of BWS
AD (imprinting)
46
Etiologies for BWS
Imprinting of chromosome 11, paternal UPD of chromosome 11, mutations in CDKN1C
47
5 clinical features of BWS
Macrosomia, Macroglossia, visceromegaly, hemihyperplasia, abdominal wall defect
48
Increased risk for what kind of cancer in BWS
Wilm's Tumor and hepatoblastoma
49
Inheritance of Beta-thal
AR
50
Beta that comes to attention at what age?
6-12 months
51
3 major features of infants with beta thal
Jaundice, FTT, HSM
52
3 major features of adults with beta thal
Severe anemia with Heinz bodies, BM hypoplasia, splenomegaly
53
Inheritance of BPES
AD
54
3 major features of BPES
Blepharophimosis, Ptosis, Epicanthus Inversus
55
Inheritance of Bloom Syndrome
AR
56
3 major features of Bloom Syndrome
Short stature, butterfly-shaped patch of skin on cheeks, increased risk of cancer
57
Inheritance of BOR Syndrome
AD
58
3 major features of BOR Syndrome
Branchial arch anomalies, ear anomalies with HL, kidney anomalies
59
Inheritance of Brugada Syndrome
AD
60
Presentation of Brugada Syndrome
Ventricular arrhythmia- syncope, seizures, difficulty breathing, sudden death
61
Inheritance of CADASIL
AD
62
3 major features of CADASIL
Migraine with aura, ischemic strokes and TIA, mood/cognitive problems
63
Inheritance of Canavan Disease
AR
64
Canavan can be characterized as?
Leukodystrophy
65
3 major features Canavan
No motor skills, feed/swallowing problems, seizures, sleep problems
66
Inheritance Cardio-Facial-Cutaneous Syndrome
AD
67
3 major features of Cardio-Facial-Cutaneous Syndrome
Heart- Pulmonic stenosis, characteristic face, Skin- wirnkled palms/soles
68
Inheritance of CMT
AD, AR, XL, Mt
69
3 major features of CMT1A
Toe walking, clumsy, foot deformities
70
Severity of CMT2A compared to CMT1A
CMT2A is more severe- earlier onset and require wheelchair
71
Inheritance of CHARGE syndrome
AD
72
CHARGE stands for what features?
Coloboma, Heart defect, Atresia Choanal, Retarded growth, Genital abnormalities, Ear abnormalities
73
Inheritance Cleidocranial Dysplasia
AD
74
3 major features of Cleidocranial dysplasia
Bone- absent clavicles, unusually shaped teeth, dysmorphic face
75
Inheritance Cockayne Syndrome
AR
76
3 major features of Cockayne Syndrome
Microcephaly, photosensitivity, FTT
77
People with Cockyne Syndrome have life threatening allergy to?
Metronidazole (antibiotic)
78
Inheritance Coffin-Lowry Syndrome
XLD
79
What sex is Coffin-Lowry syndrome more severe in?
Males
80
3 major features of Coffin-Lowry syndrome?
Profound ID, characteristic face, stimulus-induced drop episodes
81
Inheritance of CAH
AR
82
3 major features of classic CAH
Decreased fertility, females with hursutism/baldness, irregular menses, lose salt in urine (Females with ambiguous genitalia, males normal genitalia)
83
Inheritance Congenital Contractural Arachnodactyly
AD
84
3 major features of Congenital Contractural Arachnodactyly
Tall/long limbs, arachnodactyly, joint contractors (rarely heart problems)
85
Severe form of Congenital Contractural Arachnodactyly
Includes heart and GI problems- don't live past infancy
86
Inheritance of non-syndromic hearing loss
Most AR, some AD, few XL or mt
87
1 clinical feature of non-syndromic hearing loss
Partial or total loss of hearing that is not accompanied by any other signs/symptoms
88
Inheritance Cornelia de Lange Syndrome
AD
89
3 major features of Cornelia de Lange Syndrome
Short stature, abnormalities of bones in arms, ID/behavior problems, characteristic face
90
Inheritance of Costello Syndrome
AD (mostly de novo)
91
3 major features of Costello Syndrome
Development problems (FTT, DD), Heart problems (HCM), Characteristic face (curly/sparse hair)
92
People with Costello syndrome have risk for what kind of tumor
Rhabdomyosarcoma or neuroblastoma
93
Inheritance of Cri du Chat
Sporadic (usually)
94
Deletion in Cri du Chat is where?
5p
95
3 major features of Cri du Chat
High-pitched/cat-like cry, microcephaly, low birth weight
96
Inheritance of CF
AR
97
3 major features of CF
Pulmonary problems (chronic infections, breathing problems), GI (pancreatic insufficiency), extra salty sweat, male infertility
98
Inheritance of Diastrophic Dysplasia
AR
99
3 major features of Diastrophic dysplasia
Short stature with very short arms/legs, early-onset osteoarthritis and joint contractors, characteristic face
100
Inheritance of 22q11
Usually de novo
101
Where is deletion in 22q11?
22q11
102
3 major features of 22q11
Velopharyngeal incompetence, CHD, immune deficiency, increased risk for psych problems
103
Inheritance of DMD
XLR
104
3 major features of DMD
Muscle weakness and wasting-- wheelchair by adolescence, cardiomyopathy, live into 20s
105
Inheritance of early-onset Alzheimer's Disease
AD
106
3 major features of early-onset AD
Forgetfulness that interferes with daily life, needing help with personal care, may be personality/behaviour changes
107
Inheritance of Classic EDS
AD
108
3 major features of Classic EDS
Skin hyper extensibility, widened atrophic scars, joint hypermobility
109
Inheritance of hypermobile EDS
AD
110
3 major features of hypermobile EDS
Joint hyper mobility (complain of chronic pain), soft skin, absence of fragility
111
Inheritance of Vascular EDS
AD
112
3 major features of Vascular EDS
Arterial aneurysms, intestinal rupture, uterine rupture during pregnancy
113
Inheritance of Factor V Leiden Deficiency
Number of mutations influences risk
114
3 major features of Factor V Leiden Deficiency
Thrombophilia, increased risk for deep venous thrombosis, slight increased risk of miscarriage
115
Inheritance of FAP
AD
116
3 major features of FAp
Hundreds of colon polyps, increased risk for CRC, desmoid tumors
117
Lifetime risk of CRC with FAP
99%
118
Start colonoscopies at what age in FAP
10-12 yo
119
Inheritance of Familial Dysautonomia
AR
120
Unique features in Familial dysautonomia
Infancy- lack of tears, difficulty maintaining body temp; Kids- hold breath for long time; School age- bed wetting, reduced sensitivity to temperature changes/pain, BP regulation problems; Adult- walking problems, impaired kidney function
121
Inheritance Familial Mediterranean Fever
AR
122
Major feature in Familial Mediterranean fever
Recurrent episodes of painful inflammation in abdomen/chest/ joints
123
Inheritance of Fanconi Anemia
AR (Rarely XLR, AD)
124
3 major clinical features of Fanconi Anemia
BM failure, organ fetch, malformed thumbs/forearms
125
People with Fanconi Anemia have increased risk for what kind of cancer?
Acute myeloid leukaemia, tumors of head/neck/skin/GI
126
Inheritance of Crouzon Syndrome
AD
127
Inheritance of Apert Syndrome
AD
128
Inheritance of Pfeiffer Syndrome
AD
129
Inheritance of Muenke Syndrome
AD
130
3 major clinical features of Crouzon syndrome
Vrachycephaly, cervical spine anomalies, mild shortening of humerus/femora
131
2 major clinical features of Apert Syndrome
Brachycephaly, Mitten-type syndactyly of hands and feet
132
1 major clinical feature of Pfeiffer syndrome
Broad/angulated thumbs and great toes (also type 2- cloverleaf skull)
133
3 major features of Meunke Syndrome
Coronal synostosis, anomalies of hands and feet, hearing loss
134
Inheritance of Fragile X syndrome
XLR
135
Anticipation in Fragile X syndrome when passed through what parent?
Mom
136
3 major features of Fragile X
DD/ID, behaviour problems, dysmorphic face
137
Risks to Fragile X permutation carriers
FXTAS, POI
138
Premutation repeat number in Fragile X
55-200
139
Full mutation repeat number in Fragile X
200+
140
What trinucleotide repeat is expanded in Fragile X?
CGG
141
Inheritance of Friedreich's Ataxia
AR
142
3 major features of Friedreich's Ataxia
Ataxia, HCM, DM, scoliosis
143
What trinucleotide repeat is expanded in Friedreich's ataxia
GAA
144
Premutation repeat number in Friedreich's Ataxia
34-65
145
Full mutation repeat number in Friedreich's Ataxia
66-1300
146
Inheritance of Fryns Syndrome
AR
147
3 major features of Fryns Syndrome
Congenital diaphragmatic hernia (pulm hypoplasia), abnormalities of fingers and toes, dysmorphic features)
148
Inheritance of Greg Cephalopolysyndactyly
AD
149
3 major features of Greig Cephalopolysyndactyly
Polydactyly, abnormal wide thumb/big toe, cutaneous syndactyly, ID
150
Inheritance of hemophilia A
XLR
151
3 major features of hemophilia A
long bleeding time when cut, epistaxis, easy bruising, bleeding into joints!
152
Inheritance of hemophilia B
XLR
153
3 major features of hemophilia B
long bleeding time when cut, epistaxis, easy bruising, bleeding into joints!
154
What factor is deficient in hemophilia A
Factor 8
155
What factor is deficient in hemophilia B
Factor 9
156
What is more severe: hemophilia A or hemophilia B
same severity!
157
Inheritance of hemochromatosis
AR
158
3 major features of hemochromatosis
Skin discolouration, heart abnormalities, DM, liver disease, arthritis
159
What substance accumulates in tissues in hemochromatosis
Iron
160
Inheritance of HBOC
AD
161
Largest lifetime risk for female breast cancer with HBOC
Up to 85%
162
Risk for ovarian cancer with HBOC
BRCA1: 25-60%
BRCA2: 12-25%
163
Other cancer risks in HBOC
Prostate, pancreas, melanoma
164
Inheritance of Hereditary Hemorrhagic Telangiectasia
AD
165
3 major features of HHT
Arteriovenous malformations, mucocutaneous telangiectasis, frequent nosebleeds
166
Inheritance of Hereditary Neuropathy with Liability to Pressure Palsies
AD
167
3 major features of HNLPP
Recurrent episodes of numbers, pain in limbs, carpal tunnel syndrome
168
Inheritance of Hermansky-Pudlak Syndrome
AR
169
3 major features of Hermansky-Pudlak Syndrome
Oculocutaneous albinism, coagulation problems, pulmonary fibrosis
170
Inheritance of Hidrotic ectodermal dysplasia
AD
171
3 major features of hidrotic ectodermal dysplasia
Sparse hair, dystrophic nails, palmoplantar hyperkeratosis
172
Inheritance of Holt Oram
AD
173
2 major features of Holt Oram
Abnormalities of hands/arms, heart problem (ASD/VSD, conduction disease)
174
Inheritance of HD
AD
175
Anticipation occurs in HD when passed through which parent?
Dad
176
3 major features of HD
Psych, Motor- chorea, Cognitive
177
Premutation repeat number in HD
27-35
178
Full mutation repeat number in HD
40+
179
What trinucleotide repeat is expanded in HD
CAG
180
Inheritance of Hutchinson-Gilford Progeria
AD
181
Major feature of Hutchinson-Gilford Progeria
Dramatic/rapid appearance of aging in childhood- alopecia, aged-looking skin, arteriosclerosis
182
Inheritance of hypochondroplasia
Most de novo
183
3 major features of hypochondroplasia
Short-limbed dwarfism, lordosis, bowed legs
184
Inheritance of Hypohidrotic ectodermal dysplasia
XLR
185
3 major features of hypohidrotic ectodermal dysplasia
Hypohidrosis (hyperthermia!), hypotrichosis, hypodontia
186
Inheritance Incontinentia Pigmenti
XLD (lethal in males)
187
4 stages of skin problems in Incontinentia Pigmenti
Vesicular-- verrucous-- pigmentary-- atrophic
188
Inheritance of Jervell-Lange-Nielson Syndrome
AD
189
2 major features in Jervell-Lange-Nielson Syndrome
Hearing loss from birth, Long QT syndrome
190
Inheritance of Joubert Syndrome
AR (rarely XL)
191
3 major features of Joubert Syndrome
Molar tooth sign on MRI, episodes of usually fast/slow breathing, ataxia
192
Inheritance of Kabuki Syndrome
AD, XL
193
3 major features of Kabuki syndrome
DD, problems with hip/knee joints, Cleft palate, prominent finger pads
194
Inheritance of Kallman Syndrome
XL
195
3 major features of Kallman syndrome
Delayed/absent puberty, hypogonadotropic hypogonadism, anosmia
196
Karyotype of Klinefelter Syndrome
47, XXY
197
3 major features of Klinefelter Syndrome
Small testes, taller than peers, LD, behaviour problems
198
Inheritance of Krabbe Disease
AR
199
Enzyme deficiency in Krabbe disease
B-galactocerebrosidase
200
3 stages of features in infantile Krabbe
1: irritability/spasticity/FTT/dev arrest; 2: neurogeneration/seizures; 3: blind/deaf/unaware
201
Inheritance of Leber Hereditary Optic Neuropathy
mitochondrial
202
Major feature of LHON
Blurred/cloudy vision
203
Inheritance of LEOPARD Syndrome
AD
204
What does each letter stand for in LEOPARD Syndrome
Lentigines, Electrocardiographic conduction defects, Ocular hyperelorism, Pulmonary Stenosis, Abnormalities of Genitalia, Retarded growth, Deafness
205
Inheritance of Li Fraumeni Syndrome
AD
206
Gene for Li Fraumeni Syndrome
TP53 (CHEK2)
207
Lifetime risk of developing cancer with Li Fraumeni Syndrome
90%
208
3 major cancer risks with Li Fraumeni Syndrome
Sarcoma, breast, osteosarcoma
209
Screening for Li Fraumeni Syndrome
Annual full body MRI and CBC
210
Inheritance of Limb-Girdle Muscular Dystrophy
AR
211
3 major features of Limb Girdle Muscular Dystrophy
Weak thigh muscles, hypertrophy of calf muscles, cardiomyopathy in some
212
Loeys Dietz Inheritance
AD
213
3 major features of Loeys Dietz
Enlargement of aorta, arterial tortuosity, skeletal abnormalities, skin differences
214
Inheritance of Lynch Syndrome
AD
215
Increased risk for what cancers in Lynch Syndrome
CRC, endometrial, gastic, ovarian
216
Muir Torre
Association of colon cancer with sebaceous gland tumors and keratocanthomas
217
Turcot Syndrome
Association of colon cancer and CNS tumors
218
Annual colonoscopy in Lynch syndrome to start at what age?
20-25 yo
219
Inheritance of Marfan Syndrome
AD
220
3 major features of Marfan Syndrome
Tall w/ arachnodactyly, ectopic lentil, aortic aneurysm
221
Inheritance of McCune Albright Syndrome
Not inherited-mosaicism
222
3 major features of McCune Albright Syndrome
Bone- polyostotic fibrous dysplasia, Skin- CALs with irregular borders, Endocrine- early puberty, thyroid goiter, acromegaly
223
Inheritance of MEN1
AD
224
Increased risk for what cancers in MEN1
Parathyroid!, pancreas, pituitary, adrenal, neuroendocrine
225
Gene for MEN1
MEN1
226
Gene for MEN2
RET
227
Inheritance for MEN2
AD
228
Increased risk for what cancers in MEN2
Medullary thyroid!, pheochromocytoma, papillary thyroid
229
MEN2B additional features
Marfanoid body habitus, muchosal neuromas of lips and tongue
230
Prophylactic thyroidectomy at what age in MEN2A
Before 6 months
231
Prophylactic thyroidectomy at what age in MEN2B
Before 6 years
232
Inheritance of Myotonic Dystrophy
AD
233
What trinucleotide repeat is expanded in Myotonic dystrophy
CTG
234
Premutation repeat number in Myotonic Dystrophy
35-49
235
Full mutation repeat number in myotonic dystrophy
>50
236
3 major clinical features of myotonic dystrophy
Progressive muscle weakness/wasting, cataracts, cardiac conduction defects
237
Inheritance of Nemalin Myopathy
AR (less often AD)
238
3 major features of Nemalin Myopathy
Myopathy of proximal muscles, feeding/swallowing problems, joint contractures
239
Inheritance of NF1
AD
240
6 major features of NF1
CALs, neurofibromas, inguinal/axillary freckling, optic glioma, Lisch nodules, distinct osseous lesion
241
Inheritance of NF2
AD
242
NF2 has growth of non-cancerous tutors, especially:
Vestibular schwannomas or acoustic neuromas
243
Inheritance of Noonan Syndrome
AD
244
5 major features of Noonan Syndrome
Short stature, heart defect- pulmonic stenosis, bleeding problems, skeletal malformations, males with delayed puberty
245
People with Noonan syndrome are at increased risk for what type of cancer
Leukemia
246
Inheritance of Oculocutaneous Albinism
AR
247
3 major features of oculocutaneous albinism
Hypopigmentation, photophobia, reduced visual acuity
248
Inheritance of OI
AD (AR less common)
249
3 types and severity of OI
Type 1: classic/non-severity, Type 2: perinatal lethal, Type 3: Progressively deforming, Type 4: Common variable with normal sclera
250
4 major features of OI
Brittle bones, blue sclera, dentinogenesis imperfecta, hearing loss in adulthood
251
Inheritance of Parkinson's disease
Sporadic (or AD or AR)
252
3 major features of Parkinson's disease
Tremor, rigidity, braykinesia (can have psych conditions)
253
What gene is a risk factor for (but is not independently responsible for) Parkinson's disease
LRRK2
254
Inheritance of Pendred Syndrome
AR
255
3 major features of Pendred syndrome
SNHL at birth, enlarged vestibular aqueduct (EVA), goiter
256
Inheritance of Polycystic Kidney Disease
AD (biallelic mutations cause more severe disease)
257
3 major features of PKD
Cysts in kidneys (and liver), HTN, increased risk of aneurysm
258
Inheritance of Prayer Willi Syndrome
Sporadic
259
Where is deletion in Prader Willi Syndrome?
15p11-13
260
Etiologies for Prader Willi Syndrome?
Del of paternal 15p or maternal UPD of chromosome 15
261
3 major features of PWS
Intantile hypotonia and FTT, hyperphagia and obesity, hypogonadism
262
Inheritance of Cowden Syndrome
AD
263
Gene for Cowden Syndrome
PTEN
264
Increased risk for what cancers in Cowden syndrome?
Breast, endometrial, thyroid
265
Skin triad seen in Cowden syndrome
Facial trichillemommas, aural keratosis, papillomatous papules
266
Inheritance of Rett Syndrome
XLD (lethal in males)
267
3 major features of Rett syndrome
Developmental regression, hand wringing/clapping, seizures
268
Inheritance of Rubinstein-Taybi Syndrome
AD (most de novo)
269
3 major features of Rubinstein-Taybi Syndrome
ID, broad thumbs/first toes, eye/heart/kidney defects
270
People with Rubinstein-Taybi syndrome are at increased risk for what type of cancer?
Brain tumors, leukemia
271
Inheritance of Saethre-Chotzen syndrome
AD
272
Etiologies of Saethre-Chotzen Syndrome
Mutation in TWIST1 or del 7p21
273
3 major features of Saethre-Chotzen Syndrome
Craniosynostosis, Dysmorphic face, fusion of skin between 1st/2nd finger (usually normal intelligence)
274
Inheritance of Smith Magenis Syndrome
Sporadic
275
Where is deletion in Smith Magenis Syndrome
17p11.2
276
3 major features of Smith Magenis syndrome
DD/ID, Behaviour- self injury and lick/flip, sleep disturbances
277
Inheritance of Sotos Syndrome
AD (most de novo)
278
3 major features of Sotos Syndrome
Overgrowth in childhood, DD and behaviour problems, characteristic face
279
Inheritance of SMA
AR
280
3 major features of SMA
DD, unable to support head/sit unassisted, breathing and swallowing problems
281
What can modify the SMA phenotype?
Number of functional SMN2 copies
282
Inheritance of Syndromic Congenital Muscular Dystrophy
AR (sometimes AD)
283
3 major features of Syndromic Congenital Muscular Dystrophy
Muscle weakness at birth, delayed motor development with joint rigidity--> joint contractors, spinal deformities, respiratory compromise
284
Inheritance of Tay Sachs Disease
AR
285
3 major features of Tay Sachs Disease
Loss motor skills, seizures/regression, die in early childhood
286
Gold standard for diagnosis of Tay Sachs
HEXA enzyme analysis
287
Gold standard for diagnosis of CF
Sweat test
288
Inheritance of Transient Neonatal Diabetes Mellitus
Can be AR, AD, or sporadic
289
Etiologies for Transient Neonatal Diabetes Mellitus
Pat UPD, dup on chromosome 6, mutation in ZFP57
290
3 major features of Transient Neonatal Diabetes Mellitus
IUGR, Hyperglycemia and dehydration, ends after neonatal period
291
Inheritance of Triploidy
Sporadic
292
Karyotype for triploidy
69, XXX
293
Triploidy usually a result of extra paternal or maternal chromosomes?
Paternal
294
Signs in pregnant woman of triploidy fetus with extra paternal set
Cystic placenta, partial mole, IUGR, syndactyly
295
Signs in pregnant woman of triploidy fetus with extra maternal set
Small placenta, IUGR
296
Inheritance of T13
Usually sporadic
297
Karyotype for T13
47, XX, +13
298
3 major features of T13`
Midline defects: HPE, polydactyly, CL+P
299
Inheritance of T18
Usually sporadic
300
Karyotype of T18
47, XX, +18
301
3 major features of T18
Hypertonia, clenched fist with overlapping fingers, rocker bottom feet
302
Sign in pregnancy of T18 fetus
Polyhydramnios
303
Inheritance of T21
Usually sporadic (4% Rob)
304
Karyotype of T21
47, XX, +21
305
3 major features of T21
Hypotonia, CHD, characteristic face
306
Inheritance of Tuberous Sclerosis
AD
307
Organ systems affected in Tuberous Sclerosis
Skin, Kidney, Lung, Heart, Brain
308
4 skin findings in Tuberous Sclerosis
Ash leaf spots, shagreen patches, facial angiofibromas, inguinal fibromas
309
What is in brain of Tuberous Sclerosis patient and how does it affect phenotype
Cortical Tubers; the higher the number the higher the cognitive impairment
310
Inheritance of Turner Syndrome
Sporadic
311
Karyotype for Turner Syndrome
45, X
312
3 major features of Turner Syndrome
Short stature, gonadal dysgenesis, CHD in half
313
What treatment should be given to girls with Turner Syndrome
Estrogen replacement therapy
314
What treatment should be given to boys with Klinefelter syndrome
Testosterone supplementation
315
Usher Syndrome Inheritance
AR
316
3 major features of Usher Syndrome
Hearing loss, retinitis pigments, vestibular system abnormalities
317
Inheritance of VACTERL Syndrome
Sporadic (sometimes multifactorial)
318
What does each letter in VACTERL stand for?
Certebral facts, Anal atresia, Cardiac facts, Tracheo-Esophageal fistula, Renal anomalies, Limb anomalies
319
Inheritance of VHL
AD
320
Gene in VHL
VHL
321
What is the lifetime risk of renal cancer in VHL?
40%
322
What cancers are at an increased risk in VHL?
Renal, hemangioblastoma, pheochromocytoma
323
Ophthalmology exams start at what age for screening for VHL?
5 yo
324
CNS imaging by MRI is annual in screening for VHL, starting at what age?
11 yo
325
Inheritance of Waardenburg Syndrome
AD
326
3 major features of Waardenburg syndrome
SNHL, partial albinism/white forelock, blue eyes (or Dif color)
327
Inheritance of William's Syndrome
Usually sporadic
328
Where is deletion in William's Syndrome
7q11.23
329
3 major features of William's Syndrome
Outgoing personality, Elfin face, Supravalvular aortic stenosis
330
Inheritance of Wilson's disease
AR
331
What substance accumulates in tissues in Wilson's disease
Copper
332
3 major features of Wilson's disease
Liver disease with jaundice, movement disorders, Kayser-Fleischer rings, psych symptoms
333
Inheritance of Wolf-Hirschhorn Syndrome
Sporadic
334
Where is deletion in Wolf-Hirschhorn syndrome?
4p16.3
335
3 major features of Wolf Hirschhorn Syndrome
Delayed growth and development, ID, Greek Warrior helmet
336
Inheritance of Xeroderma Pigmentosum
AR
337
2 major features of Xeroderma Pigmentosum
Extreme sensitivity to UV rays from sunlight, progressive neurologic abnormalities
338
People with Xeroderma Pigmentosum have increased risk for what type of cancer?
Skin
339
Smokers with Xeroderma Pigmentosum have increased risk for what type of cancer?
Brain and Lung
340
Inheritance of XL Adrenal Hypoplasia Congenita
XL
341
3 major features of XL Adrenal Hypoplasia Congenital
Adrenal insufficiency- vomiting, hypoglycaemia; hypogonadotropic hypogonadism
342
Inheritance of XL Adrenoleukodystrophy
XLR
343
Major features of Xl adrenoleukodystrophy
Males have initially normal dev--behavior/attention changes--problems in school-- loss of vision and comprehension, adrenocortical insufficiency
344
People with XL Adrenoleukodystrophy cannot metabolize?
Very long chain fatty acids (VLCFA)
345
Inheritance of X-linked Agammaglobulinemia
XL
346
Major feature of XL Agammaglobulinemia
B cell deficiency- recurrent infections
347
Inheritance of Pallister Hall Syndrome
AD
348
3 major clinical features of Pallister Hall Syndrome
Fingers- poly/syndactyly, Brain- hypothalamic hamartoma, airway- bifid epiglottis (Also GU anomalies)
349
Most important thing to treat in Pallister Hall
Endocrine abnormalities, especially cortisol
350
Inheritance of Pallister Killian Syndrome
Not inherited- mosaic
351
What is the karyotype with Pallister Killian Syndrome
46, XX/ 47, xx, + i(12p)
352
3 major features of Pallister Killian Syndrome
Hypotonia, DD, sparse hair, abnormal pigmentation, supernumerary nipples, coarse face (more!)
353
Inheritance of WAGR syndrome
Sporadic
354
Genetic mutation in WAGR syndrome
Deletion of 11p
355
What does WAGR stand for?
Wilm's Tumor, Aniridia, GU anomalies, Retardation- ID
356
What does WAGRO stand for?
Wilm's Tumor, Aniridia, GU anomalies, Retardation- ID, Obesity
357
Inheritance of Weaver Syndrome
AD
358
3 major features of Weaver Syndrome
Overgrowth, ID, characteristic face, contractors of fingers/toes
359
Inheritance of Kennedy's Disease
XLR
360
Mutation in Kennedy's Disease
CAG trinucleotide repeat expansion (>35)
361
3 major features of Kennedy's Disease
Muscle weakness and wasting- cramps, difficulty walking, problems with feeding/swallowing; gynocomastia, infertility
362
Inheritance of Proteus syndrome
Not inherited- mosaic
363
3 major features of Proteus syndrome
Overgrowth, cerebriform connective tissue nevus on feet, ID, increased risk of pulmonary embolism
364
What does OEIS stand for?
Omphalocele, extrophy of cloaca, imperforate anus, spinal defects
365
Inheritance of Simpson-Galabi-Behmel Syndrome
XLR
366
3 major features of Simpson-Galabi-Behmel Syndrome
Overgrowth, abdominal anomalies, increased with for Wilm's tumor and neuroblastoma, coarse face
367
Inheritance of I cell Disease
AR
368
3 Major features of I cell Disease
Poor growth and development, hypotonia, bone abnormalities, death in early childhood
