Microdeletion Syndromes

Question 0

What are examples of microdeletion syndromes?

Answer 0

Cri Du Chat
DiGeorge Syndrome
Velocardiofacial Syndrome
WAGR Syndrome
Williams Syndrome

Question 1

What is characteristic of microdeletion syndromes?

Answer 1

• detected by FISH probes
• break points localize to low-copy repeat sequences which undergo abnormal recombination leading to deletions
• some are contiguous gene syndromes
• variable phenotypes

Question 2

What microdeletion syndrome is caused by large 5p (short arm) deletion?

Answer 2

Cri Du Chat

Question 3

What microdeletion syndrome has the following phenotype:
- cat like cry due to hypotonia and laryngeal abnormality, growth restriction, microcephaly, round face w/ widely spaced eyes, single palmar (simian) crease, moderate to severe mental retardation?

Answer 3

Cri Du Chat

Question 4

What microdeletion syndrome is caused by microdeletion in TBX1 gene (transcription factor) at 22q11.2 affected 3rd and 4th pharyngeal pouch?

Answer 4

DiGeorge Syndrome

Question 5

What microdeletion syndrome has the following phenotype:
- mild facial dysmorphology, slow growth, cleft palate, underdeveloped thymus, (T cell deficit) and parathyroids (hypocalcemia) cardiac defects (tetralogy of fallot), broad face, minor ear anomalies

Answer 5

DiGeorge Syndrome

Question 6

What microdeletion syndrome has great phenotype variability?

Answer 6

DiGeorge Syndrome

Question 7

What microdeletion syndrome is caused by a deletion in 22q11.2?

Answer 7

Velocardiofacial Syndrome

Question 8

What microdeletion syndrome has the following phenotype:
- Pierre-robin sequence cleft palate, velopharyngeal incompetence, micrognathia, and glossoptosis, growth and learning deficiency. Face: long narrow, tubular nose, round tip. Heart: ventricular septal defect, tetralogy of fallot

Answer 8

Velocardiofacial Syndrome

Question 9

What microdeletion syndrome is autosomal dominant?

Answer 9

Velocardiofacial Syndrome

Question 10

What microdeletion syndrome is caused by the deletion of the distal band 11p13 which includes the PAX6 gene and WT1 gene?

Answer 10

WAGR Syndrome

Question 11

What microdeletion syndrome has the following phenotype:
- Wilms tumor of the kidney in ~ 40% , aniridia (lack of an iris), glaucoma, genital anomalies, retardation of growth and development

Answer 11

WAGR Syndrome

Question 12

In what microdeletion syndrome is diagnosed by arraying comparative genomic hybridization (array CGH)

Answer 12

WAGR Syndrome

Question 13

What microdeletion syndrome affects the PAX6 gene (aniridia), WT1 gene (kidney and male genital development and also a tumor suppressor gene)

Answer 13

WAGR Syndrome

Question 14

What microdeletion syndrome is caused by a microdeletion of ELN at c7; contiguous gene syndrome

Answer 14

William’s Syndrome

Question 15

What microdeletion syndrome has the following phenotype:
- depressed nasal bridge, eye puffiness, epicanthal folding, blue eyes, long philtrum, wide mouth, delayed development, cocktail personality, hypercalcemia, musical ability

Answer 15

William’s Syndrome