Chromosomal Microarrays

Question 1

What does a CMA look for

Answer 1

copy number variation

Question 2

How big are the probes

Answer 2

25-50 bp

Question 3

Disadvantages to CMA

Answer 3

unable to detect balanced rearrangements
Cost

Question 4

Incidence of Turner Syndrome

Answer 4

1:2,000 live-born females

Question 5

Percent of females with Turner Syndrome that have 45,X/46,XX mosaicism

Answer 5

15%

Question 6

15q13.3 deletion syndrome features

Answer 6

Mild to moderate ID
Epilepsy
Facial dysmorphism
Cardiac malformations
Autism
Schizophrenia
Behavioral abnormalities

Question 7

7q11.23 critical region condition

Answer 7

Williams-Beuren microdeletion syndrome

Question 8

Williams-Beuren Microdeletion syndrome features

Answer 8

ID
Speech and language delay
DD
minor dysmorphic features
increased incidence of hypotonia and congenital anomalies (heart defects, diaphragmatic hernia, cryptorchidism)
Half have dilation of the ascending aorta
Behavioral issues

Question 9

SLC3A1 gene and PREPL genes conditions

Answer 9

cystinuria

Question 10

SDHC gene conditions

Answer 10

Hereditary Paraganglioma/Pheochromocytoma syndrome

Question 11

ATF6 gene conditions

Answer 11

achromatopsia