Genetics/mutations/mishaps Flashcards Preview

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Flashcards in Genetics/mutations/mishaps Deck (44):
1

male, cries like cat, microcephaly w/ protruding metopic suture, moon-face, hypertelorism, epicathal folds

Cri-du-Chat
deletion of 5p

2

newborn 5.8lbs, closed fists with index finger overlapping 3rd digit and his 5th overlapping 4th, microcephaly, prominent occiput, micrognathia, rocker-bottom ft

Edwards syndrome
(trisomy 18)

3

infant: hypotonia, flat face, upward palpebral fissures epicathal folds, dysplasia of pelvis, cardiac malformations, simian crease, hypoplasia of 5th finger, high arched palate

Downs
21

4

Cleft lip, flexed fingers with polydactyly, ocular hypotelorism, bulbous nose, low-set malformed ears, small abnormal skull, cerebral malformation, cardiac malformation, hypoplastic ribs

Patau's syndrome
13

5

Osteogenesis imperfecta defect

mutation in type 1 collagen

6

type of collagen in OI is important for

structural protein: skin, sclera, bone, tendon, ligament

7

Marfan syndrome defect

mutation in fibrillin-1 gene
AD

8

mc feature in Marfan syndrome

skeletal manifestations (arachnodactyly, hypermobility of joints), ectopia lentis, and aortic root dilatation

9

Kartageners syndrome classic triad

situs inversus
recurrent sinusitis
bronchiectasis

10

kartageners syndrome defect

dismotile cilia; AR
dynein arm defect

11

short height, high arched palate, widely spaced nips, 45XO

Turner Syndrome

12

Turner Syndrome is R/F for?

Osteoporos (low Estrogen)
Coarctation of Aorta

13

Klinefelter syndrome carries a risk for

Increased risk of male Breast cancer

14

Lesch Nyhan syndrome enzyme deficiency

AR disorder deficiency of
Hypoxanthine-guanine phosphoribosyl transferase (HGPRT)

15

C/F of LNS?

presents around age 6 months w/ hypotonia and persistent vomiting
worsens to: MR, choreoathetosis, spasticity, dysarthric speech dystonia and self mutilation

16

Increased uric acid levels in LNS deposit where

Gouty arthritis, tophus formation and obstructive nephropathy

17

Rx LNS

allupurinol and adequate fluids

18

Marfans syndrome genetics

AD disorder of Fibrillin-1 gene

19

Congenital contractural arachnodactyly is

AD condition in mutation of Fibrillin-2 gene

20

Congenital contractural arachnodactyly c/f

tall stature
arachnodactyly
multiple contractures involving large joints
Ocular and CV symptoms absent

21

3-4 months of age, hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia
doll-like face, thin extremities, short, protuberant abd

Von gierkes disease:
Glucose 6 phosphatase def
type I glycogen storage disease

22

Hepatomegaly, first wk of life: floppy baby w/ feeding difficult, macroglossia, HF

Pompes disease: acid maltase def
hypertrophic cardiomyopathy

23

Hepatomegaly, hypoglycemia, hyperlipidemia, growth retardation
elevated liver transaminases, fasting ketosis, NORMAL lactate and uric acid concentration;
Dx?

Type III glycogen storage disease: glycogen debranching enzyme def
Cori's disease

24

Niemann pick disease enzyme

Sphingomyelinase def

25

Tay sachs disease enzyme

B-hexosaminidase A def

26

How to differentiate Niemann pick from Tay sachs?

N: Hepatosplenomegaly, Areflexia
TS: hyperreflexia, No liver

27

Failure to thrive, bilateral cataracts, jaundice, hypoglycemia, hepatosplenomegaly, MR; Dx?

Galactosemia

28

Galactosemia enzyme def

galactose 1-P Uridyl transferase deficiency

29

Patients w/ galactosemia are at increased risk for

E.coli neonatal sepsis

30

Galactokinase def present w/

cataracts only, otherwise asymptomatic

31

Gal 4 epimerase def presnt w/

galactosemia symptoms
hypotonia and nerve deafness

32

AKA sweat test for Cystic fibrosis

Quantitaive pilocarpine iontophoresis

33

Duchennes muscular dystrophy gentic problem

XLR deletion of dystrophin gene Xp21

34

Dx PKU

Newborn screening (tandem mass spectrometry)
Quantitaive AA analysis (Incr Phenylalanine levels)

35

Myotonic dystrophy genetics

AD CTG repeak on DMPK gene on Chromosome 19q13.3

36

Myotonic Dystrophy C/F

Onset 12-30
facial weakness
handgrip myotonia
dysphagia

37

Myotonic dystrophy comorbities

Arrhythmias
cataracts
Balding
Testicular atrophy/infertility

38

Duchenne Becker genetics

XLR deletion of dystrophin on Chromosome Xp21

39

Complications of cryptochidism 4

Inguinal hernia
testicular torsion
subfertility
testicular cancer

40

Beckwith wiedemann syndrome c/f (5)

Fetal macrosomia,
rapid growth until late childhood,
omphalocele or umbilical hernia
macroglossia
hemihyperplasia

41

BWS pathogenesis

Deregulation of imprinted gene expression in chromosome 11p15

42

Complications of Beckwith Wiedemann syndrome

Wilms tumor
Hepatoblastoma

43

Check what patients with BWS

Abd USG
AFP
every 3 month from birth to age 4-8 yrs

44

Down syndrome patient with gait problems, behavioral changes, autonomic dysfunction, hypotonic, hyperreflexic; Wat happened?

Atlantoaxial instability
usually posterior transverse ligament