SE-ATLAS

Partielle Deletion des kurzen Arms von Chromosom X Mikrodeletionssyndrom 2q24 Tetrasomie 12p Partielle Deletion des kurzen Arms von Chromosom 20 Uniparental Disomie 14 Monosomie 18q Chromosom X-Anomalie, numerische Alagille-Syndrom durch Mikrodeletion 20p12 Tetraploidie Isochromosom Y Chromosom 10, partielle Duplikation des kurzen Arms Chromosom 13-Anomalie Isochromosom Yp Ringchromosom-4-Syndrom Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 5 Trisomie 1q Distale Duplikation 2p Chromosom 2-Duplikation, partielle Chromosom 12q-Deletion, partielle Chromosom 6, partielle Duplikation des langen Arms Mosaik-Trisomie 14 Mikroduplikationssyndrom 7q11.23 Chromosom 16q-Deletion, partielle Ringchromosom-3-Syndrom Mikrodeletionssyndrom 6p22 Mikrodeletionssyndrom 15q14 Inversion/Duplikation Chromosom 15 Mikroduplikationssyndrom 15q11q13 Chromosom 3, partielle Duplikation des kurzen Arms Paris-Trousseau-Syndrom Chromosom 18p-Deletion, partielle Chromosom 5-Deletion, partielle Chromosom 14q-Deletion, partielle Rubinstein-Taybi-Syndrom Mosaik-Trisomie 22 Chromosom Y-Anomalie 45,X/46,XY-Gonadendysgenesie, gemischte Ringchromosom-6-Syndrom Chromosom 8, partielle Duplikation des kurzen Arms Chromosom 8-Anomalie Trisomie 4p Distale Duplikation 11q Distale Duplikation 1p36 Chromosom 4, partielle Duplikation des langen Arms Uniparentale Disomie 22, maternale Trisomie X Chromosom 16p-Deletion, partielle Distal Monosomie 7q36 Mikrodeletionssyndrom 17p13.3, distal SATB2-assoziiertes-Syndrom durch chromosomales Rearrangement Chromosom 16-Duplikation, partielle Mikroduplikationssyndrom 17q21.31 Ringchromosom-2-Syndrom Chromosom 8-Duplikation, partielle Mikroduplikationssyndrom 1q21.1 Chromosom 2-Anomalie Tetrasomie 18p Uniparentale Disomie 6, paternale Chromosom 6, partielle Duplikation des kurzen Arms Uniparental Disomie 21 Turner-Syndrom durch strukturelle Anomalien des X-Chromosoms Chromosom Y-Anomalie, numerische Chromosom 2, partielle Duplikation des langen Arms Ringchromosom-7-Syndrom Chromosom 18-Anomalie 2p21-Mikrodeletionssyndrom ohne Cystinurie Chromosom 11q-Deletion, partielle Chromosom 12, partielle Deletion des kurzen Arms Distale Duplikation 14q Mikrodeletion 9q22.3 Partielle Duplikation/Triplikation von Chromosom 5 Ringchromosom-Y-Syndrom Mikroduplikationssyndrom 4p16.3 Mikroduplikationssyndrom 20q11.2 Monosomie X Mikrodeletionssyndrom 14q11.2 Tetrasomie 21 Chromosom 18-Deletion, partielle Distale Deletion 3p Monosomie 22 Trisomie 17p Chromosom X-Anomalie Williams-Syndrom Triploidie 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 Partial duplication of chromosome 3 Maternal uniparental disomy of chromosome X Okihiro syndrome due to 20q13 microdeletion Distal 17p13.1 microdeletion syndrome Distal duplication 15q Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Uniparental disomy of chromosome 1 Mosaic trisomy 20 Silver-Russell syndrome due to 7p11.2p13 microduplication Distal deletion 1q Anomaly of chromosome 20 1q41q42 microdeletion syndrome Trisomy 13 Partial deletion of the long arm of chromosome 6 Anomaly of chromosome 4 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion Tetrasomy 9p Atypical Norrie disease due to Xp11.3 microdeletion Mosaic monosomy X Distal duplication 7p Miller-Dieker syndrome Distal deletion 6p Sotos syndrome Partial deletion of chromosome 6 Paternal uniparental disomy of chromosome 7 Partial duplication/triplication of chromosome 9 48,XYYY syndrome Ring chromosome 11 syndrome Distal Xq28 microduplication syndrome Partial deletion of the short arm of chromosome 5 16p11.2p12.2 microdeletion syndrome 8q22.1 microdeletion syndrome Partial duplication of the long arm of chromosome 15 Partial duplication of chromosome X Trisomy 5p Trisomy 8p Partial deletion of chromosome 12 Distal 22q11.2 microdeletion syndrome Partial deletion of the long arm of chromosome 4 X chromosome number anomaly with female phenotype Oculootodental syndrome Mosaic trisomy 16 Partial duplication of chromosome 17 17q23.1q23.2 microdeletion syndrome Distal duplication 17q 10q22.3q23.3 microdeletion syndrome Anomaly of chromosome 14 8p11.2 deletion syndrome Proximal 16p11.2 microduplication syndrome 15q overgrowth syndrome 1p36 deletion syndrome Distal duplication 20q Partial deletion of the short arm of chromosome 3 17q21.31 microdeletion syndrome 49,XXXYY syndrome Partial duplication of the long arm of chromosome 13 X-linked intellectual disability-retinitis pigmentosa syndrome Xq27.3q28 duplication syndrome Partial deletion of the long arm of chromosome 22 Partial deletion of chromosome 19 Ring chromosome 16 syndrome Deafness-infertility syndrome Anomaly of chromosome 9 Paternal uniparental disomy of chromosome 21 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 48,XXXY syndrome Uniparental disomy of chromosome 11 Maternal uniparental disomy of chromosome 13 20p12.3 microdeletion syndrome Mosaic trisomy 1 Partial deletion of chromosome 9 Partial deletion of the long arm of chromosome 20 Trisomy 18 49,XXXXY syndrome Mosaic trisomy 9 22q11.2 deletion syndrome 2q31.1 microdeletion syndrome Microduplication Xp11.22p11.23 syndrome Partial duplication/triplication of the short arm of chromosome 18 Distal deletion 13q Partial duplication of the long arm of chromosome 10 Partial deletion of the short arm of chromosome 1 Mosaic trisomy 4 Ring chromosome 1 syndrome Non-distal deletion 12q Partial duplication of chromosome 20 12q14 microdeletion syndrome Partial duplication/triplication of the short arm of chromosome 12 Distal deletion 7p Partial duplication of the short arm of chromosome 1 Potocki-Shaffer syndrome Paternal uniparental disomy of chromosome 20 3q29 microdeletion syndrome 16p13.11 microduplication syndrome 22q11.2 duplication syndrome Ring chromosome 15 syndrome Syndactyly-nystagmus syndrome due to 2q31.1 microduplication Partial duplication of the short arm of chromosome 16 Anomaly of chromosome 3 Distal deletion 9p X and Y chromosomal anomaly Partial deletion of the long arm of chromosome 2 Partial duplication of the long arm of chromosome X 20q13.33 microdeletion syndrome Distal triplication 15q Temple syndrome due to paternal 14q32.2 microdeletion Partial deletion of the long arm of chromosome 18 Anomaly of chromosome 19 Partial deletion of chromosome 2 Sex-chromosome anomaly Distal duplication 22q Partial duplication of the long arm of chromosome 8 8p inverted duplication/deletion syndrome 9q31.1q31.3 microdeletion syndrome Proximal Xq28 duplication syndrome Partial duplication of the long arm of chromosome 7 3q26 microduplication syndrome Chromosome Y structural anomaly Mosaic trisomy 8 Ring chromosome 10 syndrome 16p13.3 microduplication syndrome Distal deletion 19p Partial deletion of the long arm of chromosome 17 14q22q23 microdeletion syndrome Mosaic trisomy 17 Partial deletion of chromosome 7 Distal duplication 6p Non-distal duplication 9q Maternal uniparental disomy of chromosome 4 3q27.3 microdeletion syndrome 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 Tetrasomie X Chromosom 3-Deletion, partielle Alpha-Thalassämie-Intelligenzminderung-Syndrom, gekoppelt an Chr. 16 Partielle Deletion des langen Arms von Chromosom 10 Chromosom 15-Anomalie Chromosom X mit Strukturanomalität Mowat-Wilson-Syndrom durch Monosomie 2q22 Chromosom Y-Deletion, partielle Distale Duplikation 4q Monosomie 20q, nicht-distale Uniparental Disomie 15 Trisomie 10p Kleefstra-Syndrom durch Mikrodeletion 9q34 Chromosom 19, partielle Duplikation des langen Arms Uniparentale Disomie 6, maternale Chromosom 6-Duplikation, partielle Chromosom 9p-Deletion, partielle Chromosom 8q-Deletion, partielle Chromosom 10-Anomalie Mikrodeletionssyndrom 2p15p16.1 Mikrodeletionssyndrom 19q13.11 Chromosom 16-Deletion, partielle FOXG1-Syndrom durch Mikrodeletion 14q12 Mikrodeletionssyndrom 12p12.1 Ringchromosom-18-Syndrom Duplikation 18p 48,XXYY-Syndrom Polyploidie Prader-Willi-Syndrom durch paternale Deletion 15q11.13 Mosaik-Trisomie 12 Chromosom 7-Anomalie Chromosom 7q-Deletion, partielle Mikrodeletionssyndrom Xp21 Distale Deletion 15q Distale Deletion 14q Chromosom 1-Deletion, partielle Partielle Duplikation des langen Arms von Chromosom 16 Monosomie 13q34 Ringchromosom-19-Syndrom Chromosom 6p-Deletion, partielle Mikrodeletionssyndrom 4q21 Uniparentale Disomie 16, maternale Intelligenzminderung-Syndrom, DYRK1A-assoziiertes, durch Mikrodeletion 21q22.13q22.2 Mikroduplikationssyndrom 8p23.1 Uniparental Disomie 13 Chromosom 5q-Deletion, partielle Mikrodeletionssyndrom 5q14.3 Pentasomie X Mikrodeletionssyndrom 14q24.1q24.3 Mikrodeletionssyndrom 17q11 Distale Deletion 12p Trisomie 12p Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 1 Distale Duplikation 18q Chromosom X-Deletion, partielle Chromosom 17-Anomalie Autosomen-Anomalie 21q-Deletionssyndrom Mikrodeletionssyndrom 1p31p32 Klumpfuß, familiärer isolierter, durch Mikroduplikationssyndrom 17q23.1-q23.2 Distale Deletion 17q Mikroduplikationssyndrom 5p13 Chromosom 1-Anomalie Turner-Syndrom Chromosom 1-Duplikation, partielle Distale Deletion 10p Distale Duplikation 6q Chromosom 11-Deletion, partielle Distale Deletion 12q Temple-Syndrom bei maternaler uniparentaler Disomie von Chromosom 14 Mikrodeletionssyndrom 1p21.3 Mikrodeletionssyndrom 16q24.1 Mikrodeletionssyndrom 16p13.11 Mikroduplikationssyndrom 17q11.2 Rekombinantes 8-Syndrom Chromosom 14, partielle Duplikation des langen Arms Chromosom 4p-Deletion, partielle Chromosom X, kleine Ringe Rubinstein-Taybi-Syndrom durch CREBBP-Genmutation Ringchromosom-20-Syndrom Mosaik-Trisomie 3 Duplikations-Syndrom Xq12-q13.3 Distale Duplikation 19q Oto-dentales Syndrom X-chromosomales Alport-Syndrom mit diffuser Leiomyomatose Variables Aneuploidie-Mosaik-Syndrom Uniparentale Disomie X Mikrodeletionssyndrom 20q13.2q13.3, paternal Mikrodeletionssyndrom 2q37 Monosomie 22q13 Mikroduplikationssyndrom 10q22.3q23.3 Mikrodeletionssyndrom 9p13 Chromosom 4-Deletion, partielle Mikroduplikationssyndrom 17p13 Nicht-distale Deletion 10q Chromosom 11-Anomalie Angelman-Syndrom durch paternale UPD 15 Monosomie 18p Chromosom 11, partielle Duplikation des langen Arms Chromosom 2p-Deletion, partielle Distale Duplikation 9q Mikrodeletionssyndrom 1q21.1 Chromosom 21q-Deletion, partielle Ringchromosom 21-Syndrom Mikrodeletionssyndrom 2p21, homozygotes Distale Duplikation 10q Trisomie 8q Emanuel-Syndrom Chromosom 7-Duplikation, partielle Monosomie 7p, nicht-distale Uniparentale Disomie 13, paternale Nierenkrankheit, polyzystische, autosomal-dominante, Typ 1, mit tuberöser Sklerose Mikroduplikationssyndrom 8q12 Uniparentale Disomie 21, maternale Chromosom 6-Anomalie Xp22.13p22.2-Duplikationssyndrom Uniparental Disomie 20 Chromosom 3q-Deletion, partielle Mikrodeletionssyndrom 2p13.2 Mikroduplikationssyndrom 22q11.2, distal Silver-Russell-Syndrom durch Mikroduplikation 11p15 Mikroduplikationssyndrom 2q23.1 Chromosom X, partielle Duplikation des kurzen Arms Mikrodeletionssyndrom 6q25 Chromosom 19q-Deletion, partielle Chromosom 22-Anomalie Angelman-Syndrom durch maternale Deletion 15q11q13 Chromosom 17, partielle Duplikation des kurzen Arms Neurologische Entwicklungsstörungen-kraniofaziale Dysmorphien-Herzfehler-Skelettanomalien-Syndrom durch Mikrodeletion 9q21.3 Mikrodeletionssyndrom 15q11.2 Chromosom 4-Duplikation, partielle Partielle Duplikation des langen Arms von Chromosom 9 Uniparentale Disomie X, paternale Chromosom 17-Deletion, partielle Distale Duplikation 8q Chromosom 1q-Deletion, partielle Uniparental Disomie 6 Chromosom X-Polysomie Monosomie 20q, distale Ringchromosom-22-Syndrom Uniparentale Disomie 20, maternale Chromosom 11, partielle Duplikation des kurzen Arms Chromosom 16-Anomalie Mikroduplikationssyndrom 5q35 Duplication non distale 13q Syndrome de microdélétion 19p13.12 Trisomie 9p