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Known Syndromes
Aneuploidies:
Down, Edwards, Patau
Mental retardation:
Microdeletion syndromes
Mental retardation, x-linked
Mental retardation mix 1:
1p-deletion, Williams, Smith-Magenis,
Miller-Dieker, DiGeorge, Prader-Willi,
Alagille, Saethre-Chotzen, Sotos
Mental retardation mix 2:
Wolf-Hirschhorn, Cri du Chat,
Langer-Giedon, WAGR,
Rubinstein-Taybi, Down, Kabuki
Mental retardation -
subtelomeric screening:
Broad subtelomeric screening 1
Broad subtelomeric screening 2A
Broad subtelomeric screening 2B
Monosomy 1p36
Monosomy 22q13
Telomere-6 - various
Telomere-7 - various
Telomere-8 - various
Telomere-9 - various
Telomere-10 - various
Telomere-11 - various
Telomere-12 - various
Mental retardation -
centromeric screening:
Centromeric screening
Locations of MLPA and FISH suptelomeric probes can be found on:
http://mlpa.omnilounge.co.uk.
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Prenatal and postnatal analysis
Click on the text to view the MLPA kit description.
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MLPA mix
P095
P245
P106
P064
P096
P036
P069
P070
P147
P188
P208
P230
P249
P264
P277
P286
P291
P181-P182
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Chromosomal area
13, 18, 21, X, Y
21 different syndromes
chr. X
1p36, 7q11, 17p11 17p13, 22q11, 15q11
20p12, 7p21, 5q35
4p, 5p15,
8q24,11p13-14,
16p13.3, 21, 8p
All subtelomeric regions
All subtelomeric regions
All subtelomeric regions
01p36.33
22q13
2p, 3p, 6p, 8p
9p,10p, 11p,12p
17p, 18p, 19p, 20p
1q, 2q, 3q, 4q
5q, 6q, 7q, 8q
9q, 10q, 11q, 12q
13q, 14q, 15q, 16q
Centromeric regions
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