Trisomy complete

Fullstendig liste over inkluderte mikrodelesjons og mikroduplikasjons-syndromer
1p36 microdeletion syndrome,
1q21.1 susceptibility locus for thrombocytopenia-absent radius (TAR) syndrome,
Van der Woude syndrome 1; VWS1,
Hypoparathyroidism-retardation dysmorphism syndrome; HRD, 2p15-16.1 microdeletion syndrome,
Hypotonia-cystinuria syndrome,
homozygous 2p21 deletion syndrome, 2p21 microdeletion syndrome
Holoprosencephaly 2; HPE2
Feingold syndrome
Nephronophthisis, familial juvenile NPH1
Mowat-Wilson syndrome; MOWS
Synpolydactyly 1; SPD1
2q33.1 microdeletion syndrome
2q33.1 deletion syndrome
Chromosome 2q37 deletion syndrome
Holoprosencephaly 6; HPE6
2q37 monosomy (2q37 deletion syndrome)
Von Hippel-Lindau syndrome; VHLS
Blepharophimosis, ptosis and epicanthus inversus; BPES
Dandy-Walker syndrome; DWS
3q29 microdeletion syndrome
3q29 microduplication syndrome
Wolf-Hirschhorn syndrome; WHS
Chromosome 4q21 deletion syndrome
Axenfeld-Rieger syndrome, type 1; RIEG1
Cri-du-Chat syndrome (5p deletion)
Cornelia de Lange syndrome 1; CDLS1
Familial adenomatous polyposis; FAP1
Adult-onset autosomal dominant leukodystrophy (ADLD)
5q35 microduplication syndrome
Parietal foramina 1; PFM1
Sotos syndrome; SOTOS1
Adrenal hyperplasia, congenital due to 21-hydroxylase deficiency
Branchio-oculo-facial syndrome; BOFS
Axenfeld-Rieger syndrome, type 3; RIEG3
Chromosome 6pter-p24 deletion syndrome
Prader-Willi-like phenotype
Diabetes mellitus, transient, neonatal 1; TNDM1
Silver-Russell syndrome; SRS
Greig cephalopolysyndactyly syndrome; GCPS
Saethre-Chotzen syndrome; SCS
Williams-Beuren syndrome (WBS)
7q11.23 duplication syndrome
Split-hand/foot malformation 1 (SHFM1)
Speech-language disorder 1; SPCH1
Holoprosencephaly 3; HPE3
Currarino syndrome
Kallman syndrome 2; KAL2
8p23.1 duplication syndrome
8p23.1 deletion syndrome
CHARGE syndrome
8q21.11 microdeletion syndrome
Nablus mask-like facial syndrome; NMLFS
Chromosome 9p deletion syndrome
Chromosome 9p24.3 deletion syndrome
Basal cell nevus syndrome; BCNS
Nail-patella syndrome; NPS
9q subtelomeric deletion syndrome; Kleefstra syndrome 1; KLEFS1
Hypoparathyroidism, sensorineural deafness and renal disease; HDR Del
Di George syndrome/velocardiofacial syndrome complex 2
Chromosome 10q22.3-q23.2 deletion syndrome
Juvenile polyposis syndrome; JPS
Split-hand/foot malformation 3; SHFM3
Maternal mosaic 10q25-ter deletion
Potocki-Shaffer syndrome
WAGR 11p13 deletion syndrome
Aniridia 1; AN1
Beckwith-Wiedemann syndrome; BWS
Exudative vitreoretinopathy 1; EVR1
Jacobsen syndrome; JBS
12q14 microdeletion syndrome, Buschke-Ollendorff syndrome; BOS
Noonan syndrome 1; NS1
Peters plus syndrome; PTRPLS
Chromosome 13q14 deletion syndrome
Retinoblastoma; RB1
Holoprosencephaly 5; HPE5
Frias syndrome
Chromosome 15q11-q13 duplication syndrome
Angelman syndrome (Type 1)
Prader-Willi syndrome (Type 1)
Prader-Willi syndrome (Type 2)
Angelman syndrome (Type 2)
15q13.3 microdeletion syndrome
15q15.3 deafness and infertility syndrome
Chromosome 15q24 duplication syndrome
15q24 recurrent microdeletion syndrome
Witteveen-Kolk syndrome; WITKOS
15q26 overgrowth syndrome
Chromosome 15q26-qter deletion syndrome
16p11.2 microduplication syndrome
Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)
16p11.2-p12.2 microdeletion syndrome
16p11.2-p12.2 microduplication syndrome
ATR-16 syndrome
Rubinstein-Taybi syndrome, chromosome 16p13.3 deletion syndrome, proximal
Fanconi anemia, complementation group A; FANCA
Smith-Magenis syndrome
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hereditary liability to pressure palsies (HNPP)
Chromosome 17p13.3, centromeric, duplication syndrome
Miller-Dieker syndrome (MDS)
Lissencephaly 1; LIS1
NF1 microduplication syndrome
NF1 microdeletion syndrome, neurofibromatosis, type 1; NF1
Renal cysts and diabetes syndrome; RCAD
17q21.31 recurrent microdeletion syndrome (Koolen de Vries syndrome)
Van Buchem disease; VBCH
Chromosome 17q23.1-q23.2 deletion syndrome
Chromosome 17q23.1-q23.2 duplication syndrome
Holoprosencephaly 4; HPE4
Chromosome 18q deletion syndrome
Pitt-Hopkins syndrome; PTHS
Diamond-Blackfan anemia 1; DBA1
Alagille syndrome 1; ALGS1
Pseudohypoparathyroidism, type 1A; PHP1A
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Mental retardation, autosomal dominant 7; MRD7
Holoprosencephaly 1; HPE1
Cat-eye syndrome (Type I)
22q11 duplication syndrome
22q11.2 distal deletion syndrome
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Neurofibromatosis, type II; NF2
22q13 deletion syndrome, Phelan-McDermid syndrome; PHMDS
Xp11.22-linked intellectual disability
Xp11.22-p11.23 microduplication
Chromosome Xp21 deletion syndrome
Glycerol kinase deficiency; GKD
Adrenal hypoplasia, congenital; AHC
Muscular dystrophy, Becker type; BMD
Muscular dystrophy, Duchenne type; DMD
Albinism, ocular, type 1; OA1
Linear skin defects with multiple congenital anomalies 1; LSDMCA1
Steroid sulphatase deficiency (STS)
Hypogonadotropic hypogonadism 1 with or without anosmia; HH1, Kallmann syndrome 1; KAL1
Chondrodysplasia punctata 1, X-linked recessive; CDPX1
Léri-Weill dyschondrosteosis (LWD) - SHOX deletion 1
Léri-Weill dyschondrosteosis  (LWD) - SHOX deletion 2
Agammaglobulinemia, X-linked; XLA
Pelizaeus-Merzbacher disease
Lymphoproliferative syndrome, X-linked, 1; XLP1
Mental retardation, X-linked, with panhypopituitarism
Fragile X syndrome; FXS
Xq28 microduplication
Rett syndrome; RTT
MECP2 duplication syndrome
Deafness, dystonia and cerebral hypomyelination; DDCH
SRY translocation
SRY deletion
AZFa
AZFb+AZFc