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33 Cards in this Set

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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