SE-ATLAS

10q22.3q23.3 microdeletion syndrome 10q22.3q23.3 microduplication syndrome 11p15.4 microduplication syndrome 12p12.1 microdeletion syndrome 12q14 microdeletion syndrome 12q15q21.1 microdeletion syndrome 14q11.2 microdeletion syndrome 14q11.2 microduplication syndrome 14q22q23 microdeletion syndrome 14q24.1q24.3 microdeletion syndrome 15q overgrowth syndrome 15q11.2 microdeletion syndrome 15q11q13 microduplication syndrome 15q13.3 microdeletion syndrome 15q24 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome 16p11.2p12.2 microduplication syndrome 16p13.11 microdeletion syndrome 16p13.11 microduplication syndrome 16p13.3 microduplication syndrome 16q24.1 microdeletion syndrome 16q24.3 microdeletion syndrome 17p11.2 microduplication syndrome 17p13.3 microduplication syndrome 17q11 microdeletion syndrome 17q11.2 microduplication syndrome 17q12 microdeletion syndrome 17q12 microduplication syndrome 17q21.31 microdeletion syndrome 17q21.31 microduplication syndrome 17q23.1q23.2 microdeletion syndrome 19p13.12 microdeletion syndrome 19p13.13 microdeletion syndrome 19q13.11 microdeletion syndrome 1p21.3 microdeletion syndrome 1p31p32 microdeletion syndrome 1p36 deletion syndrome 1q21.1 microdeletion syndrome 1q21.1 microduplication syndrome 1q41q42 microdeletion syndrome 1q44 microdeletion syndrome 20p12.3 microdeletion syndrome 20p13 microdeletion syndrome 20q11.2 microduplication syndrome 20q13.33 microdeletion syndrome 21q deletion syndrome 21q22.11q22.12 microdeletion syndrome 22q11.2 deletion syndrome 22q11.2 duplication syndrome 2p13.2 microdeletion syndrome 2p15p16.1 microdeletion syndrome 2p21 microdeletion syndrome without cystinuria 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome 2q24 microdeletion syndrome 2q31.1 microdeletion syndrome 2q32q33 microdeletion syndrome 2q37 microdeletion syndrome 3q13 microdeletion syndrome 3q26 microduplication syndrome 3q26q27 microdeletion syndrome 3q27.3 microdeletion syndrome 3q29 microdeletion syndrome 3q29 microduplication syndrome 45,X/46,XY mixed gonadal dysgenesis 47,XYY syndrome 48,XXXY syndrome 48,XXYY syndrome 48,XYYY syndrome 49,XXXXY syndrome 49,XXXYY syndrome 49,XYYYY syndrome 4p16.3 microduplication syndrome 4q21 microdeletion syndrome 5p13 microduplication syndrome 5q14.3 microdeletion syndrome 5q35 microduplication syndrome 6p22 microdeletion syndrome 6q terminal deletion syndrome 6q16 microdeletion syndrome 6q25 microdeletion syndrome 7p22.1 microduplication syndrome 7q11.23 microduplication syndrome 7q31 microdeletion syndrome 8p inverted duplication/deletion syndrome 8p11.2 deletion syndrome 8p23.1 duplication syndrome 8p23.1 microdeletion syndrome 8q12 microduplication syndrome 8q21.11 microdeletion syndrome 8q22.1 microdeletion syndrome 9p13 microdeletion syndrome 9q31.1q31.3 microdeletion syndrome Alagille syndrome due to 20p12 microdeletion Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome due to paternal uniparental disomy of chromosome 15 Anomaly of chromosome 1 Anomaly of chromosome 10 Anomaly of chromosome 11 Anomaly of chromosome 12 Anomaly of chromosome 13 Anomaly of chromosome 14 Anomaly of chromosome 15 Anomaly of chromosome 16 Anomaly of chromosome 17 Anomaly of chromosome 18 Anomaly of chromosome 19 Anomaly of chromosome 2 Anomaly of chromosome 20 Anomaly of chromosome 21 Anomaly of chromosome 22 Anomaly of chromosome 3 Anomaly of chromosome 4 Anomaly of chromosome 5 Anomaly of chromosome 6 Anomaly of chromosome 7 Anomaly of chromosome 8 Anomaly of chromosome 9 Atypical Norrie disease due to Xp11.3 microdeletion Autosomal anomaly Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Cat-eye syndrome Chromosome X structural anomaly Chromosome Y structural anomaly Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Deafness-infertility syndrome Deletion 5q35 Distal 16p11.2 microdeletion syndrome Distal 17p13.1 microdeletion syndrome Distal 17p13.3 microdeletion syndrome Distal 22q11.2 microdeletion syndrome Distal 22q11.2 microduplication syndrome Distal 7q11.23 microdeletion syndrome Distal 7q11.23 microduplication syndrome Distal Xq28 microduplication syndrome Distal deletion 10p Distal deletion 10q Distal deletion 12p Distal deletion 12q Distal deletion 13q Distal deletion 14q Distal deletion 15q Distal deletion 17q Distal deletion 19p Distal deletion 1q Distal deletion 3p Distal deletion 4q Distal deletion 6p Distal deletion 7p Distal deletion 9p Distal duplication 10q Distal duplication 11q Distal duplication 13q Distal duplication 14q Distal duplication 15q Distal duplication 16q Distal duplication 17q Distal duplication 18q Distal duplication 19q Distal duplication 1p36 Distal duplication 20q Distal duplication 22q Distal duplication 2p Distal duplication 2q Distal duplication 3p Distal duplication 4q Distal duplication 5q Distal duplication 6p Distal duplication 6q Distal duplication 7p Distal duplication 8q Distal duplication 9q Distal monosomy 20q Distal monosomy 7q36 Distal triplication 15q Emanuel syndrome FOXG1 syndrome due to 14q12 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Familial clubfoot due to 17q23.1q23.2 microduplication Homozygous 2p21 microdeletion syndrome Inverted duplicated chromosome 15 syndrome Isochromosome Y Isochromosomy Yp Isochromosomy Yq Jacobsen syndrome Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 Kleefstra syndrome due to 9q34 microdeletion Maternal uniparental disomy of chromosome 1 Maternal uniparental disomy of chromosome 13 Maternal uniparental disomy of chromosome 16 Maternal uniparental disomy of chromosome 2 Maternal uniparental disomy of chromosome 20 Maternal uniparental disomy of chromosome 21 Maternal uniparental disomy of chromosome 22 Maternal uniparental disomy of chromosome 4 Maternal uniparental disomy of chromosome 6 Maternal uniparental disomy of chromosome 9 Maternal uniparental disomy of chromosome X Mesomelia-synostoses syndrome Microduplication Xp11.22p11.23 syndrome Microtriplication 11q24.1 Miller-Dieker syndrome Monosomy 13q14 Monosomy 13q34 Monosomy 18p Monosomy 18q Monosomy 22 Monosomy 22q13.3 Monosomy 5p Monosomy 9p Monosomy 9q22.3 Monosomy X Mosaic monosomy X Mosaic trisomy 1 Mosaic trisomy 10 Mosaic trisomy 12 Mosaic trisomy 14 Mosaic trisomy 15 Mosaic trisomy 16 Mosaic trisomy 17 Mosaic trisomy 2 Mosaic trisomy 20 Mosaic trisomy 22 Mosaic trisomy 3 Mosaic trisomy 4 Mosaic trisomy 5 Mosaic trisomy 7 Mosaic trisomy 8 Mosaic trisomy 9 Mosaic variegated aneuploidy syndrome Mowat-Wilson syndrome due to monosomy 2q22 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion Non-distal deletion 10q Non-distal deletion 12q Non-distal duplication 10q Non-distal duplication 13q Non-distal duplication 9q Non-distal monosomy 20q Non-distal monosomy 7p Oculootodental syndrome Okihiro syndrome due to 20q13 microdeletion Otodental syndrome Paris-Trousseau thrombocytopenia Partial chromosome Y deletion Partial deletion of chromosome 1 Partial deletion of chromosome 10 Partial deletion of chromosome 11 Partial deletion of chromosome 12 Partial deletion of chromosome 16 Partial deletion of chromosome 17 Partial deletion of chromosome 18 Partial deletion of chromosome 19 Partial deletion of chromosome 2 Partial deletion of chromosome 20 Partial deletion of chromosome 3 Partial deletion of chromosome 4 Partial deletion of chromosome 5 Partial deletion of chromosome 6 Partial deletion of chromosome 7 Partial deletion of chromosome 8 Partial deletion of chromosome 9 Partial deletion of chromosome X Partial deletion of the long arm of chromosome 1 Partial deletion of the long arm of chromosome 10 Partial deletion of the long arm of chromosome 11 Partial deletion of the long arm of chromosome 12 Partial deletion of the long arm of chromosome 13 Partial deletion of the long arm of chromosome 14 Partial deletion of the long arm of chromosome 15 Partial deletion of the long arm of chromosome 16 Partial deletion of the long arm of chromosome 17 Partial deletion of the long arm of chromosome 18 Partial deletion of the long arm of chromosome 19 Partial deletion of the long arm of chromosome 2 Partial deletion of the long arm of chromosome 20 Partial deletion of the long arm of chromosome 21 Partial deletion of the long arm of chromosome 22 Partial deletion of the long arm of chromosome 3 Partial deletion of the long arm of chromosome 4 Partial deletion of the long arm of chromosome 5 Partial deletion of the long arm of chromosome 6 Partial deletion of the long arm of chromosome 7 Partial deletion of the long arm of chromosome 8 Partial deletion of the long arm of chromosome 9 Partial deletion of the long arm of chromosome X Partial deletion of the short arm of chromosome 1 Partial deletion of the short arm of chromosome 10 Partial deletion of the short arm of chromosome 11 Partial deletion of the short arm of chromosome 12 Partial deletion of the short arm of chromosome 16 Partial deletion of the short arm of chromosome 17 Partial deletion of the short arm of chromosome 18 Partial deletion of the short arm of chromosome 19 Partial deletion of the short arm of chromosome 2 Partial deletion of the short arm of chromosome 20 Partial deletion of the short arm of chromosome 3 Partial deletion of the short arm of chromosome 4 Partial deletion of the short arm of chromosome 5 Partial deletion of the short arm of chromosome 6 Partial deletion of the short arm of chromosome 7 Partial deletion of the short arm of chromosome 8 Partial deletion of the short arm of chromosome 9 Partial deletion of the short arm of the chromosome X Partial duplication of chromosome 1 Partial duplication of chromosome 10 Partial duplication of chromosome 11 Partial duplication of chromosome 16 Partial duplication of chromosome 17 Partial duplication of chromosome 19 Partial duplication of chromosome 2 Partial duplication of chromosome 20 Partial duplication of chromosome 3 Partial duplication of chromosome 4 Partial duplication of chromosome 6 Partial duplication of chromosome 7 Partial duplication of chromosome 8 Partial duplication of chromosome X Partial duplication of the long arm of chromosome 1 Partial duplication of the long arm of chromosome 10 Partial duplication of the long arm of chromosome 11 Partial duplication of the long arm of chromosome 13 Partial duplication of the long arm of chromosome 14 Partial duplication of the long arm of chromosome 15 Partial duplication of the long arm of chromosome 16 Partial duplication of the long arm of chromosome 17 Partial duplication of the long arm of chromosome 18 Partial duplication of the long arm of chromosome 19 Partial duplication of the long arm of chromosome 2 Partial duplication of the long arm of chromosome 20 Partial duplication of the long arm of chromosome 22 Partial duplication of the long arm of chromosome 3 Partial duplication of the long arm of chromosome 4 Partial duplication of the long arm of chromosome 5 Partial duplication of the long arm of chromosome 6 Partial duplication of the long arm of chromosome 7 Partial duplication of the long arm of chromosome 8 Partial duplication of the long arm of chromosome 9 Partial duplication of the long arm of chromosome X Partial duplication of the short arm of chromosome 1 Partial duplication of the short arm of chromosome 10 Partial duplication of the short arm of chromosome 11 Partial duplication of the short arm of chromosome 16 Partial duplication of the short arm of chromosome 17 Partial duplication of the short arm of chromosome 2 Partial duplication of the short arm of chromosome 3 Partial duplication of the short arm of chromosome 4 Partial duplication of the short arm of chromosome 6 Partial duplication of the short arm of chromosome 7 Partial duplication of the short arm of chromosome 8 Partial duplication of the short arm of chromosome X Partial duplication/triplication of chromosome 18 Partial duplication/triplication of chromosome 5 Partial duplication/triplication of chromosome 9 Partial duplication/triplication of the short arm of chromosome 12 Partial duplication/triplication of the short arm of chromosome 18 Partial duplication/triplication of the short arm of chromosome 5 Partial duplication/triplication of the short arm of chromosome 9 Paternal 20q13.2q13.3 microdeletion syndrome Paternal uniparental disomy of chromosome 1 Paternal uniparental disomy of chromosome 13 Paternal uniparental disomy of chromosome 20 Paternal uniparental disomy of chromosome 21 Paternal uniparental disomy of chromosome 5 Paternal uniparental disomy of chromosome 6 Paternal uniparental disomy of chromosome 7 Paternal uniparental disomy of chromosome X Pentasomy X Polyploidy Polysomy of X chromosome Potocki-Shaffer syndrome Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Proximal 16p11.2 microdeletion syndrome Proximal 16p11.2 microduplication syndrome Proximal Xq28 duplication syndrome Rare chromosomal anomaly Recombinant 8 syndrome Ring chromosome 1 syndrome Ring chromosome 10 syndrome Ring chromosome 11 syndrome Ring chromosome 12 syndrome Ring chromosome 13 syndrome Ring chromosome 14 syndrome Ring chromosome 15 syndrome Ring chromosome 16 syndrome Ring chromosome 17 syndrome Ring chromosome 18 syndrome Ring chromosome 19 syndrome Ring chromosome 2 syndrome Ring chromosome 20 syndrome Ring chromosome 21 syndrome Ring chromosome 22 syndrome Ring chromosome 3 syndrome Ring chromosome 4 syndrome Ring chromosome 5 syndrome Ring chromosome 6 syndrome Ring chromosome 7 syndrome Ring chromosome 8 syndrome Ring chromosome 9 syndrome Ring chromosome Y syndrome Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency SATB2-associated syndrome due to a chromosomal rearrangement Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Sex-chromosome anomaly Silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Smith-Magenis syndrome Sotos syndrome Syndactyly-nystagmus syndrome due to 2q31.1 microduplication Temple syndrome due to maternal uniparental disomy of chromosome 14 Temple syndrome due to paternal 14q32.2 microdeletion Tetragametic chimerism Tetraploidy Tetrasomy 12p Tetrasomy 18p Tetrasomy 21 Tetrasomy 5p Tetrasomy 9p Tetrasomy X Trichorhinophalangeal syndrome type 2 Triploidy Trisomy 10p Trisomy 12p Trisomy 13 Trisomy 17p Trisomy 18 Trisomy 18p Trisomy 1q Trisomy 20p Trisomy 4p Trisomy 5p Trisomy 8p Trisomy 8q Trisomy 9p Trisomy X Turner syndrome Turner syndrome due to structural X chromosome anomalies Uniparental disomy of chromosome 1 Uniparental disomy of chromosome 11 Uniparental disomy of chromosome 13 Uniparental disomy of chromosome 14 Uniparental disomy of chromosome 15 Uniparental disomy of chromosome 20 Uniparental disomy of chromosome 21 Uniparental disomy of chromosome 6 Uniparental disomy of chromosome 7 Uniparental disomy of chromosome X WAGR syndrome Williams syndrome Wolf-Hirschhorn syndrome X and Y chromosomal anomaly X chromosome anomaly X chromosome number anomaly X chromosome number anomaly with female phenotype X chromosome number anomaly with male phenotype X small rings X-linked Alport syndrome-diffuse leiomyomatosis X-linked intellectual disability-retinitis pigmentosa syndrome Xp21 deletion syndrome Xp22.13p22.2 duplication syndrome Xp22.3 microdeletion syndrome Xq12-q13.3 duplication syndrome Xq27.3q28 duplication syndrome Y chromosomal anomaly Y chromosome number anomaly