Multiple Congenital Anomaly Syndromes - 22q11.2DS Flashcards
(52 cards)
0
Q
Contiguous gene deletion syndrome
A
.
1
Q
Molecular testing for deletion
A
.
2
Q
de novo deletions
A
.
3
Q
homologous recombination
A
.
4
Q
Low Copy Repeats (LCRs)
A
.
5
Q
FISH probes and TBX1 gene
A
.
6
Q
Deletions that don’t include TBX1 gene
A
.
7
Q
prevalence and screening
A
.
8
Q
22q11.2 and CHD
A
.
9
Q
22a11.2 and palatal anomalies
A
.
10
Q
22q11.2 and developmental disabilities
A
.
11
Q
prevalence of medical problems by age
A
.
12
Q
Indications for diagnostic testing by age
A
.
13
Q
Inter and intra familial variability
A
.
14
Q
Mortality
A
.
15
Q
Frequent associations
A
.
16
Q
Immunodeficiency
A
.
17
Q
Low T-cells and newborn screening for SCID
A
.
18
Q
Cardiac anomalies
A
.
19
Q
Benefits of early cardiac diagnosis
A
.
20
Q
Palatal abnormalities
A
.
21
Q
Endocrine abnormalities
A
.
22
Q
Additional endocrine abnormalities
A
.
23
Q
GI and GU abnormalities
A
.
24
Rare but important associations - ENT, GI, Skeletal
.
25
Rare but important associations - neurologic, malignancies
.
26
Rare but important associations - identifiable prenatally
.
27
Craniofacial differences
.
28
Hemifacial microsomia/auricular abnormalities
.
29
Eye findings
.
30
Pierre Robin
.
31
Nasal differences
.
32
Asymmetric crying facies
.
33
Intellectual deficits and psychiatric illness
.
34
Development in young children with 22q11.2
.
35
Development in school aged children with 22q11.2
1. children with ID tend to be those who had a secondary insult, such as during repair of a CHD or epilepsy
2. good with reading and spelling, not so much math
36
Somatic mosaicism
.
37
Germline mosaicism
.
38
Familial occurrence by chance
.
39
Co-occurring conditions possible
.
40
Unmasking an AR condition
.
41
Nested deletions
.
42
Nested deletions familial
.
43
Overlapping phenotype dut to TBX1 mutation
.
44
Phenocopies/differential diagnosis
.
45
Summary 1
.
46
Summary 2
.
47
Summary 3
.
48
Not related to advanced maternal age
.
49
Typical features
.
50
Early diagnosis and intervention matters
.
51
Wide variability
.
