Genetics/mutations/mishaps

Question 1

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

Answer 1

Cri-du-Chat

deletion of 5p

Question 2

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

Answer 2

Edwards syndrome

trisomy 18

Question 3

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

Answer 3

Downs

21

Question 4

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

Answer 4

Patau’s syndrome

13

Question 5

Osteogenesis imperfecta defect

Answer 5

mutation in type 1 collagen

Question 6

type of collagen in OI is important for

Answer 6

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

Question 7

Marfan syndrome defect

Answer 7

mutation in fibrillin-1 gene

AD

Question 8

mc feature in Marfan syndrome

Answer 8

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

Question 9

Kartageners syndrome classic triad

Answer 9

situs inversus
recurrent sinusitis
bronchiectasis

Question 10

kartageners syndrome defect

Answer 10

dismotile cilia; AR

dynein arm defect

Question 11

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

Answer 11

Turner Syndrome

Question 12

Turner Syndrome is R/F for?

Answer 12

Osteoporos (low Estrogen)

Coarctation of Aorta

Question 13

Klinefelter syndrome carries a risk for

Answer 13

Increased risk of male Breast cancer

Question 14

Lesch Nyhan syndrome enzyme deficiency

Answer 14

AR disorder deficiency of

Hypoxanthine-guanine phosphoribosyl transferase (HGPRT)

Question 15

C/F of LNS?

Answer 15

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

Question 16

Increased uric acid levels in LNS deposit where

Answer 16

Gouty arthritis, tophus formation and obstructive nephropathy

Question 17

Rx LNS

Answer 17

allupurinol and adequate fluids

Question 18

Marfans syndrome genetics

Answer 18

AD disorder of Fibrillin-1 gene

Question 19

Congenital contractural arachnodactyly is

Answer 19

AD condition in mutation of Fibrillin-2 gene

Question 20

Congenital contractural arachnodactyly c/f

Answer 20

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

Question 21

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

Answer 21

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

Question 22

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

Answer 22

Pompes disease: acid maltase def

hypertrophic cardiomyopathy

Question 23

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

Answer 23

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

Question 24

Niemann pick disease enzyme

Answer 24

Sphingomyelinase def

Question 25

Tay sachs disease enzyme

Answer 25

B-hexosaminidase A def

Question 26

How to differentiate Niemann pick from Tay sachs?

Answer 26

N: Hepatosplenomegaly, Areflexia TS: hyperreflexia, No liver

Question 27

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

Answer 27

Galactosemia

Question 28

Galactosemia enzyme def

Answer 28

galactose 1-P Uridyl transferase deficiency

Question 29

Patients w/ galactosemia are at increased risk for

Answer 29

E.coli neonatal sepsis

Question 30

Galactokinase def present w/

Answer 30

cataracts only, otherwise asymptomatic

Question 31

Gal 4 epimerase def presnt w/

Answer 31

galactosemia symptoms | hypotonia and nerve deafness

Question 32

AKA sweat test for Cystic fibrosis

Answer 32

Quantitaive pilocarpine iontophoresis

Question 33

Duchennes muscular dystrophy gentic problem

Answer 33

XLR deletion of dystrophin gene Xp21

Question 34

Dx PKU

Answer 34

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

Question 35

Myotonic dystrophy genetics

Answer 35

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

Question 36

Myotonic Dystrophy C/F

Answer 36

Onset 12-30 facial weakness handgrip myotonia dysphagia

Question 37

Myotonic dystrophy comorbities

Answer 37

Arrhythmias cataracts Balding Testicular atrophy/infertility

Question 38

Duchenne Becker genetics

Answer 38

XLR deletion of dystrophin on Chromosome Xp21

Question 39

Complications of cryptochidism 4

Answer 39

Inguinal hernia testicular torsion subfertility testicular cancer

Question 40

Beckwith wiedemann syndrome c/f (5)

Answer 40

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

Question 41

BWS pathogenesis

Answer 41

Deregulation of imprinted gene expression in chromosome 11p15

Question 42

Complications of Beckwith Wiedemann syndrome

Answer 42

Wilms tumor | Hepatoblastoma

Question 43

Check what patients with BWS

Answer 43

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

Question 44

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

Answer 44

Atlantoaxial instability | usually posterior transverse ligament