SNP-Chip Microarray

GENETIC DISORDERS WITH DETECTABLE MICRODELETIONS/DUPLICATIONS
USING DNA MICROARRAY SNP-CHIP*
                 
  DISORDER       CHROMOSOME  
                 
A. HIGH DETECTION RATES [Percent detection ranges from 50 to over 99%]  
                 
Angelman syndrome         15q11.2-q12 deletion  
Cat eye syndrome         inv dup(22)(q11.2)  
Congenital adrenal hypoplasia       Xp21.2 deletion  
Cri-du-Chat syndrome       5p15.2-p13.3 deletion
Deletion/Duplication Syndromes            
  deletion and/or duplication/triplication   1p36    
  deletion syndrome       3q29    
  deletion syndrome       9q34.3    
  deletion syndrome       15q21    
  Inversion duplication/deletion 8p23.1   8p    
  duplication syndrome       22q11.2    
  15q11.2-q12 (PWS AS) duplication   15q11.2-q12  
DiGeorge, Velocardiofacial syndrome     22q11.2 deletion  
DiGeorge syndrome 2       10p14 deletion  
Dosage sensitive sex reversal       Xp21.2 duplication  
Jacobsen (11q25 deletion) syndrome     11q24-q25  
Langer-Giedion syndrome       8q23.3-q24.11 deletion
Leri-Weill dyschondrosteosis       Xp22.33/Yp11.32  
Miller-Dieker lissencephaly syndrome     17p13.3 deletion  
Nephronophthisis 1         2q13 homozygous deletion
Pelizaeus-Merzbacher disease       Xq22 duplication or deletion
Prader-Willi syndrome       15q11.2-q12 deletion  
Prader-Willi/Angelman duplication     15q11.2-q12  
Potocki-Shaffer syndrome       11p11.2 deletion  
Smith-Magenis syndrome       17p11.2 deletion  
Smith-Magenis syndrome duplication     17p11.2    
Steroid Sulfatase Deficiency       Xp22.31 deletion/duplication
Williams-Beuren syndrome       7q11.23 deletion/duplication
Wolf-Hirschhorn syndrome       4p16.3 deletion  
                 
B. DISORDERS WITH INTERMEDIATE DETECTION RATES [per cent detection ranges from 5 to 35%]
                 
Autism spectrum         Multiple sites  
Alagille syndrome         20p12.2 deletion  
Aniridia           11p13 deletion  
Deletion Syndrome         2q22.3    
Glycerol kinase deficiency       Xp22 deletion  
Greig cephalo-polysyndactyly syndrome     7p14.1 deletion  
Neurofibromatosis II         22q12.2 deletion  
Retinoblastoma         13q14.2 deletion  
Rett syndrome         Xq28 deletion/duplication
Rubinstein-Taybi syndrome       16p13.3 deletion  
Saethre-Chotzen syndrome       7p21.1 deletion  
Sex reversal X/Y translocations       Yp11.31 deletion  
Trichorhinophalangeal syndrome 1     8q23.3 deletion  
Tuberous sclerosis 1         9q34.2 deletion  
WAGR syndrome         11p13 deletion  
Wilms tumor         11p13 deletion  
                 
C. DISORDERS WITH LOW DETECTION RATES [per cent detection uncertain or less than 5%]
                 
                 
Autism spectrum         15q11.2-q13, 16p11.2, 22q13.3
Autism spectrum         Xp22.32 deletion  
Basal cell nevus syndrome       9q22.32 deletion  
Beckwith-Wiedemann syndrome       11p15.5 deletion/duplication
Bruton agammaglobulinemia       Xq22.1 deletion  
Campomelic dysplasia       17q24.3 deletion  
CHARGE syndrome         8q12.2 deletion  
Cleidocranial dysplasia       6p21.1 deletion  
Congenital diaphragmatic hernia       15q26.1-q26.2 deletion
Cornelia de Lange syndrome       5p13.2 deletion  
Dandy-Walker syndrome       3q24 deletion  
Down syndrome critical region       21q22 duplication  
Feingold syndrome         2p24.3 deletion  
Holoprosencephaly 1         21q22.3 deletion  
Holoprosencephaly 2         2p21 deletion  
Holoprosencephaly 3         7q36.3 deletion  
Holoprosencephaly 4         18p11.31 deletion  
Holoprosencephaly 5         13q32.3 deletion  
Holoprosencephaly 7         Missense mutations  
Hypoparathyroidism, sensorineural deafness and renal disease 10p14 duplication  
Kallmann syndrome 1       Xp22.31 deletion  
Leukodystrophy         11q14.2-q14.3 deletion
Mental retardation X-linked with growth hormone deficiency Xq27.1 deletion or duplication
Microphthalmia with linear skin defects     Xp22.2 deletion  
Nail-patella syndrome       9q33.3 deletion  
Neurofibromatosis I         17q11.2 deletion  
Noonan syndrome         12q24.13 deletion  
Rieger syndrome, type 1       4q25 deletion  
Split-Hand/foot malformation-3       10p14 duplication  
Sotos syndrome         5q35 deletion  
X-linked heterotaxy         Xq26.3 deletion  
                 
*Note that microdeletion/duplication analysis establishes a diagnosis in the vast majority of disorders listed in Section A. The occurrence of microdeletions/duplications in disorders listed in Sections B and C is much less frequent or very infrequent. Gene sequencing is available for an increasing number of these disorders including Tuberous Sclerosis type 1, Noonan syndrome, CHARGE syndrome, Rett syndrome and Neurofibromatosis types 1 and 2. [See this website for our list of DNA Diagnostic Tests].
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