Syndromes

Question 1

Beckwith Weideman

Answer 1

Overgrowth syndrome
Macrosomic (Larger than normal)
Macroglossic (Large tongue)
Hemihyperplasia (abn large growth on one side of body)
Omphalocele
Hypoglycemia

Wilms tumor and Hepatoblastoma are common

Question 2

Trisomy 13

Answer 2

Patau Syndrome

80% will die by 1 mo of age if survive birth
Many congenital anomolies:
holoproencephaly, abnormal mid face development, clefting, heart defects
Micro-opthalmia
Cutis Aplasia

Question 3

Autosomal Recessive Traits

Answer 3

Equal in male and female
Trait will appear in every other generation
Carrier Parents= 25% risk
Affected Parent + Carrier Parent =50% risk
Affected Parents = Affected Child 100%

Ex. Sickle Cell, Cystic Fibrosis, PKU, Tay- Sachs Disease, Galactosemia and majority of inborn errors of metabolism

Question 4

Autosomal Dominant Traits

Answer 4

Equal in male and females
50% risk transmission with carrier parent
75% risk if both parents affected
No skipped generations

Achondroplasia, Huntingtons, Marfans

Question 5

Sex Linked Patterns of Inheritance

Answer 5

X linked= dominant in males; recessive in females
Equal in males and females

X Linked: Fathers can’t pass to sons

Ex. Turners, Triple X, Klinefelter

Question 6

Trisomy 18

Answer 6

Edwards Syndrome

IUGR, polyhydramnios, hypotonia, low set malformed ears, severe mental retardation

Question 7

Syndrome

Answer 7

Pattern of many primary malformations due to one etiology

Question 8

Sequence

Answer 8

Primary defect with secondary effects

Ex. Pierre robin

Question 9

What type of inheritance is G6PD?

Answer 9

X linked recessive

Question 10

What is a common X linked dominant disorder?

Answer 10

Fragile X Syndrome

Question 11

What is the FISH Test for?

Answer 11

Looks for small sections of DNA that would be missed by normal chromosome analysis.

Can detect micro deletions like DiGeorge and Williams Syndrome

Question 12

DiGeorge Syndrome

Answer 12

Associated with hypocalcemia
Not usually inherited, but sporadic
C shaped ear, hooded eyelids, bulbous nose, microstomia, heart defects and GI issues common.

Remember Acronym: CATCH-22

Cardiac Defects, Abnormal facies, Thymic Aplasia, Clefting, Hypoparathyroid, Hypocalcemia, 22q11.2

Question 13

Williams Syndrome

Answer 13

Associated with Hypercalcemia
Outgoing personalities
Failure to Thrive

Question 14

Prader Willi Syndrome

Answer 14

Think Michelin Man baby when 6 months old

Failure to Thrive
Hypotonia
Hypogonadism
Obesity at 6 months-6 years

Question 15

Angelman Syndrome

Answer 15

Think of an angel baby with Blonde hair and pale skin

Blonde hair
Hypopigmentation
Large mouth
Wide teeth
Siezures

Question 16

Achondroplasia

Answer 16

Increase risk with increased paternal age
Glucose intolerance
Short limbs
Short Stature
Abnormal Vertebrate

Question 17

Tay Sachs

Answer 17

Incompatible with life
Disorder of CNS
Lose ability to grasp, become blind, and paralyzed
Death occurs by age 5