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 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 Distale Duplikation 16q Uniparental Disomie 7 Chromosom 10p-Deletion, partielle Mikrodeletionssyndrom 1q44 Partielle Duplikation des langen Arms von Chromosom 20 Mikrodeletionssyndrom 7q31 Mikrodeletionssyndrom 16p11.2, distal Partielle Deletion des langen Arms von Chromosom 9 Chromosom 12-Anomalie Smith-Magenis-Syndrom Mikrodeletionssyndrom 15q13.3 Uniparentale Disomie 1, maternale Mikrodeletionssyndrom 2q23.1 Mikrodeletionssyndrom 7q11.23, distal Mikroduplikationssyndrom 7q11.23, distal Ringchromosom-8-Syndrom Chromosom 8-Deletion, partielle Mosaik-Trisomie 2 Isochromosom Yq Chromosom 8p-Deletion, partielle Mikrodeletionssyndrom 12q15q21.1 Mosaik-Trisomie 15 Mikroduplikationssyndrom 16p11.2p12.2 Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 2 Distale Duplikation 13q Distale Duplikation 3p Monosomie 13q14 Mikrodeletionssyndrom 21q22.11q22.12 Mikrodeletionssyndrom 3q13 Ringchromosom 5-Syndrom Silver-Russell-Syndrom durch maternale uniparentale Disomie von Chromosom 11 Chromosom 19-Duplikation, partielle Syndrome de microdélétion 8q21.11 Disomie uniparentale paternelle du chromosome 5 Duplication partielle du chromosome 11 Syndrome de microduplication 11p15.4 Syndrome de microduplication 17q12 Duplication partielle du bras long du chromosome 18 Tétrasomie 5p Syndrome de chromosome 9 en anneau Syndrome de microduplication 14q11.2 Syndrome du chromosome 13 en anneau Duplication partielle du bras long du chromosome 17 Anomalie chromosomique rare Délétion partielle du bras court du chromosome 7 Syndrome 49,XYYYY Microtriplication 11q24.1 Duplication partielle du chromosome 3 Disomie uniparentale maternelle du chromosome X Syndrome d'Okihiro dû à une microdélétion 20q13 Syndrome de microdélétion 17p13.1 distale Duplication distale 15q Syndrome de dysmorphie faciale-retard de développement-troubles du comportement dû à une microdélétion 10p11.21p12.31 Disomie uniparentale du chromosome 1 Trisomie 20 en mosaïque Syndrome de Silver-Russell dû à une microduplication 7p11.2p13 Délétion distale 1q Anomalie du chromosome 20 Syndrome de microdélétion 1q41q42 Trisomie 13 Délétion partielle du bras long du chromosome 6 Anomalie du chromosome 4 Syndrome de Kagami-Ogata lié à une microdélétion maternelle 14q32.2 Tétrasomie 9p Maladie de Norrie atypique due à une microdélétion Xp11.3 Monosomie X en mosaïque Duplication distale 7p Syndrome de Miller-Dieker Délétion distale 6p Syndrome de Sotos Délétion partielle du chromosome 6 Disomie uniparentale paternelle du chromosome 7 Duplication/triplication partielle du chromosome 9 Syndrome 48,XYYY Syndrome du chromosome 11 en anneau Syndrome de microduplication Xq28 distale Délétion partielle du bras court du chromosome 5 Syndrome de microdélétion 16p11.2p12.2 Microdélétion 8q22.1 Duplication partielle du bras long du chromosome 15 Duplication partielle du chromosome X Trisomie 5p Trisomie 8p Délétion partielle du chromosome 12 Syndrome de microdélétion 22q11.2 distale Délétion partielle du bras long du chromosome 4 Anomalie du nombre de chromosome X avec phénotype féminin Syndrome oculo-oto-dentaire Trisomie 16 en mosaïque 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 3q29 microduplication syndrome Jacobsen syndrome Paternal uniparental disomy of chromosome 1 Xp22.3 microdeletion syndrome 7p22.1 microduplication syndrome Partial deletion of the long arm of chromosome X WAGR syndrome Partial duplication of the short arm of chromosome 4 Trisomy 20p Tetragametic chimerism Partial deletion of the short arm of chromosome 19 Partial duplication/triplication of chromosome 18 Partial duplication of chromosome 10 16q24.3 microdeletion syndrome Partial deletion of the long arm of chromosome 15 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 Ring chromosome 12 syndrome Partial duplication/triplication of the short arm of chromosome 9 Mesomelia-synostoses syndrome Distal duplication 2q 8p23.1 microdeletion syndrome Partial deletion of chromosome 20 Non-distal duplication 10q 15q24 microdeletion syndrome 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 Nicht-distale Duplikation 13q Mikrodeletionssyndrom 19p13.12 Duplikation 9p partial