SE-ATLAS

Partial deletion of the short arm of the chromosome X 2q24 microdeletion syndrome Tetrasomy 12p Partial deletion of the short arm of chromosome 20 Uniparental disomy of chromosome 14 Monosomy 18q X chromosome number anomaly Alagille syndrome due to 20p12 microdeletion Tetraploidy Isochromosome Y Partial duplication of the short arm of chromosome 10 Anomaly of chromosome 13 Isochromosomy Yp Ring chromosome 4 syndrome Partial duplication/triplication of the short arm of chromosome 5 Trisomy 1q Distal duplication 2p Partial duplication of chromosome 2 Partial deletion of the long arm of chromosome 12 Partial duplication of the long arm of chromosome 6 Mosaic trisomy 14 7q11.23 microduplication syndrome Partial deletion of the long arm of chromosome 16 Ring chromosome 3 syndrome 6p22 microdeletion syndrome Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion Inverted duplicated chromosome 15 syndrome 15q11q13 microduplication syndrome Partial duplication of the short arm of chromosome 3 Paris-Trousseau thrombocytopenia Partial deletion of the short arm of chromosome 18 Partial deletion of chromosome 5 Partial deletion of the long arm of chromosome 14 Rubinstein-Taybi syndrome Mosaic trisomy 22 Y chromosomal anomaly 45,X/46,XY mixed gonadal dysgenesis Ring chromosome 6 syndrome Partial duplication of the short arm of chromosome 8 Anomaly of chromosome 8 Trisomy 4p Distal duplication 11q Distal duplication 1p36 Partial duplication of the long arm of chromosome 4 Maternal uniparental disomy of chromosome 22 Trisomy X Partial deletion of the short arm of chromosome 16 Distal monosomy 7q36 Distal 17p13.3 microdeletion syndrome SATB2-associated syndrome due to a chromosomal rearrangement Partial duplication of chromosome 16 17q21.31 microduplication syndrome Ring chromosome 2 syndrome Partial duplication of chromosome 8 1q21.1 microduplication syndrome Anomaly of chromosome 2 Tetrasomy 18p Paternal uniparental disomy of chromosome 6 Partial duplication of the short arm of chromosome 6 Uniparental disomy of chromosome 21 Turner syndrome due to structural X chromosome anomalies Y chromosome number anomaly Partial duplication of the long arm of chromosome 2 Ring chromosome 7 syndrome Anomaly of chromosome 18 2p21 microdeletion syndrome without cystinuria Partial deletion of the long arm of chromosome 11 Partial deletion of the short arm of chromosome 12 Distal duplication 14q Monosomy 9q22.3 Partial duplication/triplication of chromosome 5 Ring chromosome Y syndrome 4p16.3 microduplication syndrome 20q11.2 microduplication syndrome Monosomy X 14q11.2 microdeletion syndrome Tetrasomy 21 Partial deletion of chromosome 18 Distal deletion 3p Monosomy 22 Trisomy 17p X chromosome anomaly Williams syndrome Triploidy Distal duplication 16q Uniparental disomy of chromosome 7 Partial deletion of the short arm of chromosome 10 1q44 microdeletion syndrome Partial duplication of the long arm of chromosome 20 7q31 microdeletion syndrome Distal 16p11.2 microdeletion syndrome Partial deletion of the long arm of chromosome 9 Anomaly of chromosome 12 Smith-Magenis syndrome 15q13.3 microdeletion syndrome Maternal uniparental disomy of chromosome 1 2q23.1 microdeletion syndrome Distal 7q11.23 microdeletion syndrome Distal 7q11.23 microduplication syndrome Ring chromosome 8 syndrome Partial deletion of chromosome 8 Mosaic trisomy 2 Isochromosomy Yq Partial deletion of the short arm of chromosome 8 12q15q21.1 microdeletion syndrome Mosaic trisomy 15 16p11.2p12.2 microduplication syndrome Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Distal duplication 13q Distal duplication 3p Monosomy 13q14 21q22.11q22.12 microdeletion syndrome 3q13 microdeletion syndrome Ring chromosome 5 syndrome Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Partial duplication of chromosome 19 8q21.11 microdeletion syndrome Paternal uniparental disomy of chromosome 5 Partial duplication of chromosome 11 11p15.4 microduplication syndrome 17q12 microduplication syndrome Partial duplication of the long arm of chromosome 18 Tetrasomy 5p Ring chromosome 9 syndrome 14q11.2 microduplication syndrome Ring chromosome 13 syndrome Partial duplication of the long arm of chromosome 17 Rare chromosomal anomaly Partial deletion of the short arm of chromosome 7 49,XYYYY syndrome Microtriplication 11q24.1 Chromosom 3-Duplikation, partielle Uniparentale Disomie X, maternale Okihiro-Syndrom durch Monosomie 20q13 Mikrodeletionssyndrom 17p13.1, distal Distale Duplikation 15q Gesichtsdysmorphie-Entwicklungsverzögerung-Verhaltensstörungen-Syndrom durch Mikrodeletionssyndrom 10p11.21p12.31 Uniparental Disomie 1 Mosaik-Trisomie 20 Silver-Russell-Syndrom durch Mikrodeletion 7p11.2p13 Distale Deletion 1q Chromosom 20-Anomalie Mikrodeletionssyndrom 1q41q42 Trisomie 13 Chromosom 6q-Deletion, partielle Chromosom 4-Anomalie Kagami-Ogata-Syndrom durch maternale Mikrodeletion 14q32.2 Tetrasomie 9p Norrie-Syndrom, atypisches, durch Mikrodeletion Xp11.3 Monosomie X-Mosaik Distale Duplikation 7p Miller-Dieker-Syndrom Distale Deletion 6p Sotos-Syndrom Chromosom 6-Deletion, partielle Uniparentale Disomie 7, paternale Partielle Duplikation/Triplikation von Chromosom 9 48,XYYY-Syndrom Ringchromosom-11-Syndrom Mikroduplikationssyndrom Xq28, distal Chromosom 5p-Deletion, partielle Mikrodeletionssyndrom 16p11.2p12.2 Nablus mask-like facial-Syndrom Chromosom 15, partielle Duplikation des langen Arms Chromosom X-Duplikation, partielle Trisomie 5p Trisomie 8p Chromosom 12, partielle Deletion Mikrodeletionssyndrom 22q11.2, distal Chromosom 4q-Deletion, partielle Chromosom X-Anomalie, numerische, weiblicher Phänotyp Okulo-otodentales Syndrom (OOD) Mosaik-Trisomie 16 Chromosom 17-Duplikation, partielle Mikrodeletionssyndrom 17q23.1q23.2 Distal duplication 17q Mikrodeletionssyndrom 10q22.3q23.3 Chromosom 14-Anomalie Mikrodeletionssyndrom 8p11.2 Proximales Mikroduplikationssyndrom 16p11.2 15q-Großwuchs-Syndrom 1p36-Deletionssyndrom Distale Duplikation 20q Chromosom 3p-Deletion, partielle Mikrodeletionssyndrom 17q21.31 49,XXXYY-Syndrom Chromosom 13, partielle Duplikation des langen Arms X-chromosomale Intelligenzminderung-Retinitis pigmentosa-Syndrom Mikroduplikationssyndrom Xq27.3-q28 Chromosom 22q-Deletion, partielle Chromosom 19-Deletion, partielle Ringchromosom-16-Syndrom Schwerhörigkeit-Infertilitäts-Syndrom Chromosom 9-Anomalie Uniparentale Disomie 21, paternale Schwere neonatale Hypotonie-Krämpfe-Enzephalopathie-Syndrom durch Mikrodeletion 5q31.3 48,XXXY-Syndrom Uniparental Disomie 11 Uniparentale Disomie 13, maternale Mikrodeletionssyndrom 20p12.3 Mosaik-Trisomie 1 Chromosom 9-Deletion, partielle Chromosom 20q-Deletion, partielle Trisomie 18 49,XXXXY-Syndrom Mosaik-Trisomie 9 Deletion 22q11 Mikrodeletionssyndrom 2q31.1 Mikroduplikationssyndrom Xp11.22-p11.23 Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 18 Distale Deletion 13q Chromosom 10, partielle Duplikation des langen Arms Chromosom 1p-Deletion, partielle Mosaik-Trisomie 4 Ringchromosom-1-Syndrom Nicht-distale Deletion 12q Partielle Duplikation von Chromosom 20 Mikrodeletionssyndrom 12q14 Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 12 Distale Deletion 7p Chromosom 1, partielle Duplikation des kurzen Arms Potocki-Shaffer-Syndrom Uniparentale Disomie des Chromosom 20, paternale Mikrodeletionssyndrom 3q29 Mikroduplikationssyndrom 16p13.11 Mikroduplikationssyndrom 22q11.2 Ringchromosom-15-Syndrom Syndaktylie-Nystagmus-Syndrom durch Mikroduplikation 2q31.1 Chromosom 16, partielle Duplikation des kurzen Arms Chromosom 3-Anomalie Distale Deletion 9p Chromosom Y und X-Anomalie Chromosom 2q-Deletion, partielle Chromosom X, partielle Duplikation des langen Arms Mikrodeletionssyndrom 20q13.33 Distale Triplikation 15q Temple-Syndrom durch paternale Mikrodeletion 14q32.2 Chromosom 18q-Deletion, partielle Chromosom 19-Anomalie Chromosom 2-Deletion, partielle Gonosomen-Anomalie Distale Duplikation 22q Chromosom 8, partielle Duplikation des langen Arms 8p-Invertierte Duplikation/Deletion-Syndrom Mikrodeletionssyndrom 9q31.1q31.3 Xq28-Duplikationssyndrom, proximales Chromosom 7, partielle Duplikation des langen Arms Mikroduplikationssyndrom 3q26 Chromosom Y mit Strukturanomalität Mosaik-Trisomie 8 Ringchromosom-10-Syndrom Mikroduplikationssyndrom 16p13.3 Distale Deletion 19p Chromosom 17q-Deletion, partielle Mikrodeletionsyndrom 14q22q23 Mosaik-Trisomie 17 Chromosom 7-Deletion, partielle Distale Duplikation 6p Nicht-distale Duplikation 9q Uniparentale Disomie 4, maternale Mikrodeletionssyndrom 3q27.3 Mikroduplikationssyndrom 3q29 Jacobsen-Syndrom Uniparentale Disomie 1, paternale Mikrodeletionssyndrom Xp22.3 Mikroduplikationssyndrom 7p22.1 Chromosom X, partielle Deletion des langen Arms WAGR-Syndrom Chromosom 4, partielle Duplikation des kurzen Arms Trisomie 20p Tetragametischer Chimärismus Chromosom 19p-Deletion, partielle Partielle Trisomie/Tetrasomie von Chromosom 18 Chromosom 10-Duplikation, partielle Mikrodeletionssyndrom 16q24.3 Chromosom 15q-Deletion, partielle Kagami-Ogata-Syndrom durch paternale uniparentale Disomie von Chromosom 14 Ringchromosom-12-Syndrom Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 9 Mesomelie-Synostosen-Syndrom Distale Duplikation 2q Mikrodeletionssyndrom 8p23.1 Chromosom 20-Deletion, partielle Nicht-distale Duplikation 10q Mikrodeletionssyndrom 15q24 Partielle Duplikation des langen Arms von Chromosom 5 Distale Deletion 4q Partielle Deletion des kurzen Arms von Chromosom 17 Wolf-Hirschhorn-Syndrom Uniparentale Disomie 2, maternale Katzenaugensyndrom Deletion 5q35 Rubinstein-Taybi-Syndrom durch Mikrodeletion 16p13.3 Mikrodeletionssyndrom 6q16 Chromosom 5-Anomalie Chromosom 7, partielle Duplikation des kurzen Arms Tricho-rhino-phalangeales-Syndrom Typ 2 Terminales 6q-Deletion-Syndrom Chromosom 2, partielle Duplikation des kurzen Arms Prader-Willi-Syndrom durch maternale uniparentale Disomie 15 Mikrodeletionssyndrom 3q26q27 Chromosom 21-Anomalie Mosaik-Trisomie 5 Chromosom 13q-Deletion, partielle 47,XYY-Syndrom Ringchromosom-14-Syndrom Mikrodeletionssyndrom 16p11.2, proximales Mikroduplikationssyndrom 17p11.2 Mikrodeletionssyndrom 20p13 Mosaik-Trisomie 7 Rubinstein-Taybi-Syndrom durch EP300-Haploinsuffizienz Distale Duplikation 5q Mosaik-Trisomie 10 Chromosom 3, partielle Duplikation des langen Arms Chromosom 10-Deletion, partielle Monosomie 9p Cri-du-chat-Syndrom Chromosom 22, partielle Duplikation des langen Arms Distale Deletion 10q Chromosom 11p-Deletion, partielle Mikrodeletionssyndrom 2q32q33 Chromosom X-Anomalie, numerische , männlicher Phänotyp Mikrodeletionssyndrom 17q12 Silver-Russell-Syndrom durch maternale uniparental Disomie des Chromosom 7 Uniparentale Disomie 9, maternale Mikrodeletionssyndrom 19p13.13 Ringchromosom 17-Syndrom Chromosom 1, partielle Duplikation des langen Arms Tetrasomy X Partial deletion of chromosome 3 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 Partial deletion of the long arm of chromosome 10 Anomaly of chromosome 15 Chromosome X structural anomaly Mowat-Wilson syndrome due to monosomy 2q22 Partial chromosome Y deletion Distal duplication 4q Non-distal monosomy 20q Uniparental disomy of chromosome 15 Trisomy 10p Kleefstra syndrome due to 9q34 microdeletion Partial duplication of the long arm of chromosome 19 Maternal uniparental disomy of chromosome 6 Partial duplication of chromosome 6 Partial deletion of the short arm of chromosome 9 Partial deletion of the long arm of chromosome 8 Anomaly of chromosome 10 2p15p16.1 microdeletion syndrome 19q13.11 microdeletion syndrome Partial deletion of chromosome 16 FOXG1 syndrome due to 14q12 microdeletion 12p12.1 microdeletion syndrome Ring chromosome 18 syndrome Trisomy 18p 48,XXYY syndrome Polyploidy Prader-Willi syndrome due to paternal 15q11q13 deletion Mosaic trisomy 12 Anomaly of chromosome 7 Partial deletion of the long arm of chromosome 7 Xp21 deletion syndrome Distal deletion 15q Distal deletion 14q Partial deletion of chromosome 1 Partial duplication of the long arm of chromosome 16 Monosomy 13q34 Ring chromosome 19 syndrome Partial deletion of the short arm of chromosome 6 4q21 microdeletion syndrome Maternal uniparental disomy of chromosome 16 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 8p23.1 duplication syndrome Uniparental disomy of chromosome 13 Partial deletion of the long arm of chromosome 5 5q14.3 microdeletion syndrome Pentasomy X 14q24.1q24.3 microdeletion syndrome 17q11 microdeletion syndrome Distal deletion 12p Trisomy 12p Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Distal duplication 18q Partial deletion of chromosome X Anomaly of chromosome 17 Autosomal anomaly 21q deletion syndrome 1p31p32 microdeletion syndrome Familial clubfoot due to 17q23.1q23.2 microduplication Distal deletion 17q 5p13 microduplication syndrome Anomaly of chromosome 1 Turner syndrome Partial duplication of chromosome 1 Distal deletion 10p Distal duplication 6q Partial deletion of chromosome 11 Distal deletion 12q Temple syndrome due to maternal uniparental disomy of chromosome 14 1p21.3 microdeletion syndrome 16q24.1 microdeletion syndrome 16p13.11 microdeletion syndrome 17q11.2 microduplication syndrome Recombinant 8 syndrome Partial duplication of the long arm of chromosome 14 Partial deletion of the short arm of chromosome 4 X small rings Rubinstein-Taybi syndrome due to CREBBP mutations Ring chromosome 20 syndrome Mosaic trisomy 3 Xq12-q13.3 duplication syndrome Distal duplication 19q Otodental syndrome X-linked Alport syndrome-diffuse leiomyomatosis Mosaic variegated aneuploidy syndrome Uniparental disomy of chromosome X Paternal 20q13.2q13.3 microdeletion syndrome 2q37 microdeletion syndrome Monosomy 22q13.3 10q22.3q23.3 microduplication syndrome 9p13 microdeletion syndrome Partial deletion of chromosome 4 17p13.3 microduplication syndrome Non-distal deletion 10q Anomaly of chromosome 11 Angelman syndrome due to paternal uniparental disomy of chromosome 15 Monosomy 18p Partial duplication of the long arm of chromosome 11 Partial deletion of the short arm of chromosome 2 Distal duplication 9q 1q21.1 microdeletion syndrome Partial deletion of the long arm of chromosome 21 Ring chromosome 21 syndrome Homozygous 2p21 microdeletion syndrome Distal duplication 10q Trisomy 8q Emanuel syndrome Partial duplication of chromosome 7 Non-distal monosomy 7p Paternal uniparental disomy of chromosome 13 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis 8q12 microduplication syndrome Maternal uniparental disomy of chromosome 21 Anomaly of chromosome 6 Xp22.13p22.2 duplication syndrome Uniparental disomy of chromosome 20 Partial deletion of the long arm of chromosome 3 2p13.2 microdeletion syndrome Distal 22q11.2 microduplication syndrome Silver-Russell syndrome due to 11p15 microduplication 2q23.1 microduplication syndrome Partial duplication of the short arm of chromosome X 6q25 microdeletion syndrome Partial deletion of the long arm of chromosome 19 Anomaly of chromosome 22 Angelman syndrome due to maternal 15q11q13 deletion Partial duplication of the short arm of chromosome 17 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion 15q11.2 microdeletion syndrome Partial duplication of chromosome 4 Partial duplication of the long arm of chromosome 9 Paternal uniparental disomy of chromosome X Partial deletion of chromosome 17 Distal duplication 8q Partial deletion of the long arm of chromosome 1 Uniparental disomy of chromosome 6 Polysomy of X chromosome Distal monosomy 20q Ring chromosome 22 syndrome Maternal uniparental disomy of chromosome 20 Partial duplication of the short arm of chromosome 11 Anomaly of chromosome 16 5q35 microduplication syndrome Non-distal duplication 13q 19p13.12 microdeletion syndrome Trisomy 9p