Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
33 Cards in this Set
- Front
- Back
- 3rd side (hint)
|
1p deletion
|
1p36
|
|
|
|
Wolf-Hischorn
|
4p16.3
|
|
|
|
Cri du Chat
|
5p15.2-15.3
|
|
|
|
Williams
|
7q11.23
|
|
|
|
Langer-Gideon
|
8q24.1
|
|
|
|
WAGR
|
11p13
|
|
|
|
Beckwith-Wiedeman
|
11p15 duplication
or paternal UPD |
|
|
|
Retinoblastoma
|
13q14
|
|
|
|
Prader-Willi
|
15q11.2 deletion (70%)
or maternal UPD (25%) |
|
|
|
Angelman
|
15q11.2 deletion (70%)
or paternal UPD (5-10%) |
|
|
|
Rubenstein-Taybi
|
16p13.3
|
|
|
|
Miller-Dieker
|
17p11.3
|
|
|
|
Charcot-Marie-Tooth
|
17p11.2 (duplication)
|
|
|
|
Smith-Magenis
|
17p11.2 (deletion)
|
|
|
|
Allagile
|
20p11.2
|
|
|
|
DeGeorge
|
22q11.2 (deletion)
|
|
|
|
Cat-eye
|
22q11.2 (duplication)
|
|
|
|
Phenotype: MR, growth delays, seizures, HL, characteristic facies
|
Dx: 1p36 deletion syndrome
Test: FISH for 1p36 |
|
|
|
Phenotype: Greek Warrir Helmet facies, CL/P, cardiac issues
|
Dx: Wolf-Hirschorn
Test: FISH 4p16.3 |
|
|
|
Phenotype: Tyical cry, facial features, MR, heart defects
|
Dx: Cri du Chat
Test: FISH 5p15.2-15.3 |
|
|
|
Phenotype: Cardiac anomalies, MR, friendly personality, "Elfin" facies
|
Dx: Williams syndrome
Test: FISH 7q11.23 Remember: Williams kids are "q"-ties |
|
|
|
Phenotype: MR, multiple exostoses, loose skin, characteristic facies, sparse hair
|
Dx: Langer-Gideon
Locus: 8q24 |
Also known as Trichorhinophalangeal syndrome II
|
|
|
Phenotype: Wilms tumor, Aniridia, Genitourinary defects, MR
|
Dx: WAGR
Locus: 11p13 |
|
|
|
Phenotype: Overgrowth w/ wilms tumor
|
Dx: Beckwith-Wiedeman
Locus: 11p15 |
|
|
|
Phenotype: eye tumors, microcephaly, cardiac and eye defects, thumb hypoplasia
|
Dx: Retinoblastoma
Test: FISH for 13q14 |
|
|
|
Phenotype: FTT in newborn with obesity onset by 2y, MR, hypogonadism, SS
|
Dx: Prader-Willi
Test: methylation studies and/or FISH for 15q11.2 |
|
|
|
Phenotype: MR, seizures, ataxia, characteristic gait, nonverbal
|
Dx: Angelman
Test: methylation studies and/or FISH for 15q11.2 |
|
|
|
Phenotype: Broad thumbs and toes, MR, characteristic facies, hypoplastic maxilla
|
Dx: Rubenstein Taybi
Locus: 16p13.3 |
|
|
|
Phenotype: Lissencephaly
|
Dx: Miller-Dieker
Test: FISH for 17p13.3 |
|
|
|
Phenotype: distal muscle weakness, atrophy, depressed tendon reflexes, pes cavus
|
Dx: CMT
Locus: 17p11.2 (duplication) |
|
|
|
Phenotype: characteristic facies, hypotonia, sleep disturbances, self-injurious behaviors
|
Dx: Smith-Magenis
Test: FISH for 17p11.2 (deletion) |
|
|
|
Phenotype: Characteristic facies, cardiac/renal/eye defects, vertebral anomalies
|
Dx: Allagile
Locus: 20p11.2 |
|
|
|
Phenotype: CL/P, heart defects, characteristic facies, LD, immunodeficiency, parathyroid insufficiency
|
Dx: DiGeorge syndrome
Test: FISH for 22q11.2 |
|
