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Genetics Flashcards

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1
Q

Most common hematological finding in down more than one year

A

ALL

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2
Q

Most common cause of death for Trisomy 18

A

Central apnea

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3
Q

Most common cardiac defect for Edward syndrome

A

VSD

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4
Q

Clinical features of Trisomy 13

A

Midline defect
Aplasia cutis congenita

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5
Q

Turner has increased risk of which malignancy

A

Gonadoblastoma

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6
Q

Noonan’s most common cardiac defect

A

Pulmonary stenosis

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7
Q

Noonan features

A

Letter P:
Down slanted palpebral fissures
Ptosis
Abnormal platelets
Pulmonary stenosis
Ptpn11 gene

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8
Q

Most common cause of infertility in males

A

Klinfelter

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9
Q

Klinfelter clinical features

A

Gynecomastia
Small testes
Micropenis
Tall stature
Intellectual disability

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10
Q

Fragile X features

A

Big peripheries:
Big ears, hands and feet
Macroorchidism

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11
Q

Most common cardiac defect of fragile x

A

Mitral valve prolapse

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12
Q

Most common form of inherited ID

A

Fragile X

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13
Q

Which syndrome has > 200 CGG repeats in FMR gene

A

Fragile X

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14
Q

How to confirm fragile X

A

Molecular genetic testing for CGG allele

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15
Q

Most common cardiac defect of William

A

Supravalvular aortic stenosis

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16
Q

How is calcium in william?

A

High

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17
Q

Alagile syndrome clinical features

A

Triangular face
Posterior embrotoxon
Butterfly vertebrae
Cholestatic jaundice

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18
Q

Common cardiac defect of alagile 

A

Peripheral pulmonary artery stenosis

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19
Q

Wolf Hirschhorn syndrome lab findings

A

IgA deficiency

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20
Q

Wolf farm syndrome fratures

A

DI
DM
Blindness
Desfness

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21
Q

Which syndrome has an increased risk of anesthesia complications

A

Rubinstein Taybi Syndrome

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22
Q

Rubinstein Taybi Syndrome clinical features

A

Broad thumb and great toes
Spinal cord tethering

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23
Q

What is the most common micro relation syndrome?

A

DiGeorge

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24
Q

Clinical features of DiGeorge

A

Cardiac defect
Abnormal face
Thymic hypoplasia/Parathyroid aplasia
Cleft palate
Hypotonia

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25
What is the most common micro relation syndrome?
DiGeorge
26
Angelman features
Jerky movement Seizure Inappropriate laughter
27
meds to avoid in Angelman
Vigabatrin Carbamazepine
28
Mode of inheritance of Angelman
Maternal deletion of 15q11
29
Prader Willi Syndrome features
Hypotonia Hyperphagia Central obesity Small hands and feet
30
Prader Willi Syndrome mode of inheritance
Paternal derived deletion 15q11
31
Most common syndromic obesity
Prader Willi Syndrome
32
Beckwith Wiedman syndrome clinical features
Omphalocele Umbilical hernia Hemihypertrophy Posterior auricar pits Normal intelligence
33
Mode of inheritance of Bardet Biedl syndrome
AR
34
Clinical features of Bardet Biedl syndrome
Obesity Polyuria and polydipsia Retinitis pigmentosa Postaxial polydactyly Mental retardation
35
Most common GI association of Bardet Biedl syndrome
Hirschprung
36
Sotos syndrome clinical features
Large hand and feet Large head Seizure Premature tooth eruptions
37
Radiological finding of Sotos
Ventriculomegaly
38
Proteus syndrome clinical features
Hemihypertrophy Macrodactyly Accelerated growth Connective tissue nevi Lipoma and vascular malformations
39
Proteus syndrome has risk for which malignancy?
Embryonic tumor
40
Most common cause of death of achondroplasia?
Craniocervical junction compression
41
Spinal x ray specific finding of achondroplasia
Narrow interpeduncular distance
42
Achondroplasia clinical features?
Rhizomelic shortening Trident hands Stenosis of foramen magnum Macrocephaly
43
Thanatophoric dysolasia type 2
Straight femur with Cloverleaf skull
44
Thanatophoric dysolasia type 1
No coverleaf skull Telephone receiver femur
45
Caffey disease features
Irritability Cortical thickening of bones Pseudoparalysis
46
Clinical features of OI
 Short stature Blue sclera Easy bruising
47
Which form of OI has hearing loss?
Type 1
48
Which form of OI is the most severe?
2
49
Most common cardiac defect in Marfan syndrome
Mitral valve prolapse Aortic root dilatation
50
Marfan major criteria
Ectopia lentis Aortic root dilatation Family hx
51
How to confirm marfan?
Ghent criteria: 2 major 1 major and FBN gene 1 major and 7 systemic score
52
Treacher collins syndrome
Zygomatic bone hypoplasia Choanal atresia Microtia
53
Treacher collins syndrome features
Zygomatic and mandibular hypoplasia Choanal atresia Microtia Cleft lip
54
Goldenhar syndrome
Facial asymmetry Eyelid coloboma Limbal dermoid
55
Brancio-oto-renal syndrome
Pulmonary hypoplasia Branchial cleft fistula Renal aplasia Hearing loss Preauricular tags
56
Stickler pathognomic finding
Vitreous gel anomaly
57
Ophthalmic emergency associated with Stickler
Retinal detachment
58
Pierre robin sequence
Mandibular hypoplasia Micrognathia Glossoptosis Cleft palate
59
Which syndromes has hirschprung association 
Bardet Biedl syndrome Waardenburg
60
Features of Wardenburg
White forelock heterochromia Sensorineural deafness
61
All craniosynostosis syndromes are AD except
Carpenter
62
Which craniosynostosis syndrome has normal hands
Crouzon
63
Which syndrome is associated with increased sensitivity to ionizing radiation
Ataxia telangeiectasia
64
Ataxia telangeiectasia consistent lab finding
High AFP
65
Bulbar telangeiectasia is seen with _____
Ataxia telangeiectasia
66
Palperbral telangeiectasia is seen with
Osler Weber Rendu
67
What is the most common cause of pulmonary arteriovenous malformation
Osler Weber Rendu
68
Characteristics of bloom syndrome
Photosensitive rash Cafe au lait spots Low IG levels
69
Most common chromosome instability syndromes
AT Bloom Cockayne Fanconi anemia Xeroderma pigmentosa
70
Most common cause of death in Bloom
Leukemia
71
Chromosome, instability syndrome, mode of inheritance
AR
72
All of the genetic syndromes are inherited as ___ except
AD Chromosomal instability syndromes Bardet Biedl
73
All of the metabolic diseases are __, except
AR EXCEPT XLR: Lesch Nyhan OTC Fabry Hunter
74
Duane affected cranial nerve
6
75
Most common type of benign tumor in NF1
Neurofibroma
76
Criteria for NF1
2 of the following: > 6 cafe au lait (5,15) > 2 NF > 2 iris hamartoms Optic glioma Axillary and inguinal freckling Bony lesions First degree relativity
77
What is Von Recklinghausen disease
NF1
78
Most common type of tumor in NF2
Schwannoma
79
What is the most common affected nerve with Schwannoma?
8
80
Which NF is associated with cognitive impairment
NF1
81
Tuberous sclerosis neurological complication?
Infantile spasm
82
Tuberous sclerosis cardiac defect
Rhabdomyoma
83
Tram track calcification is seen with which syndrome
Sturge Weber
84
Sturge Weber hemangioma
Diffuse choroidal hemangioma Glaucoma Port wine stain Seizure on contralateral side
85
Mccune albright triad
Precocious puberty Cafe au lait Olyostotic fibrous dysplasia
86
Classic MAS precocious puberty sign
Vaginal bleeding
87
Cafe au lait MAS vs NF
MAS: Irregular borders NF: Smooth borders, cross midline
88
89
Russel silver syndrome
Hemihypertrophy Pseudohydrocephalus Syndactyly Short stature and FTT Hypoglycemia
90
Poland syndrome
Absence of pectoralis muscle Aplasia if ribs and nipples Abnormalities in upper extremity
91
Which maternal disease increase risk of poland?
Maternal diabetes
92
Mobious is associated with which syndrome?
Poland
93
VACTREL is
Vertebral defect Anal atresia CHD TE fistula Esophageal atresia Renal anomalies Single umbilical artery
94
Most common cardiac defect in VACTREL
VSD
95
Which disease is due to hypomethylation if IGF 2
Russel silver
96
Which has ID? (Charge vs Vactrel)
Charge
97
Which has ID? (Charge vs Vactrel)
Charge
98
Charge

Medstudy Pediatrics (9 decks)

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