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 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 Mikrodeletionssyndrom 8q21.11 Uniparentale Disomie 5, paternale Chromosom 11-Duplikation, partielle Mikroduplikationssyndrom 11p15.4 Mikroduplikationssyndrom 17q12 Partielle Duplikation des langen Arms von Chromosom 18 Tetrasomie 5p Ringchromosom-9-Syndrom Mikroduplikationssyndrom 14q11.2 Ringchromosom-13-Syndrom Chromosom 17, partielle Duplikation des langen Arms Seltene Chromosomenanomalie Chromosom 7p-Deletion, partielle 49,XYYYY-Syndrom Mikrotriplikation 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 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 Délétion partielle du chromosome 20 Duplication non distale 10q Syndrome de microdélétion 15q24 Duplication partielle du bras long du chromosome 5 Délétion distale 4q Délétion partielle du bras court du chromosome 17 Syndrome de Wolf-Hirschhorn Disomie uniparentale maternelle du chromosome 2 Syndrome du cat-eye Délétion 5q35 Syndrome de Rubinstein-Taybi dû à une microdélétion 16p13.3 Syndrome de microdélétion 6q16 Anomalie du chromosome 5 Duplication partielle du bras court du chromosome 7 Syndrome trichorhinophalangien type 2 Syndrome de délétion 6q terminale Duplication partielle du bras court du chromosome 2 Syndrome de Prader-Willi dû à une disomie uniparentale maternelle du chromosome 15 Syndrome de microdélétion 3q26q27 Anomalie du chromosome 21 Trisomie 5 en mosaïque Délétion partielle du bras long du chromosome 13 Syndrome 47,XYY Syndrome du chromosome 14 en anneau Syndrome de microdélétion 16p11.2 proximale Syndrome de microduplication 17p11.2 Syndrome de microdélétion 20p13 Trisomie 7 en mosaïque Syndrome de Rubinstein-Taybi par haploinsuffisance de EP300 Duplication distale 5q Trisomie 10 en mosaïque Duplication partielle du bras long du chromosome 3 Délétion partielle du chromosome 10 Monosomie 9p Monosomie 5p Duplication partielle du bras long du chromosome 22 Délétion distale 10q Délétion partielle du bras court du chromosome 11 Syndrome de microdélétion 2q32q33 Anomalie du nombre de chromosome X avec phénotype masculin Syndrome de microdélétion 17q12 Syndrome de Silver-Russell dû à une disomie uniparentale maternelle du chromosome 7 Disomie uniparentale maternelle du chromosome 9 Syndrome de microdélétion 19p13.13 Syndrome du chromosome 17 en anneau Duplication partielle du bras long du chromosome 1 Tétrasomie X Délétion partielle du chromosome 3 Syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16 Délétion partielle du bras long du chromosome 10 Anomalie du chromosome 15 Anomalie de structure du chromosome X Syndrome de Mowat-Wilson dû à une monosomie 2q22 Délétion partielle du chromosome Y Duplication distale 4q Monosomie non distale 20q Disomie uniparentale du chromosome 15 Trisomie 10p Syndrome de Kleefstra dû à une microdélétion 9q34 Duplication partielle du bras long du chromosome 19 Disomie uniparentale maternelle du chromosome 6 Duplication partielle du chromosome 6 Délétion partielle du bras court du chromosome 9 Délétion partielle du bras long du chromosome 8 Anomalie du chromosome 10 Syndrome de microdélétion 2p15p16.1 Syndrome de microdélétion 19q13.11 Délétion partielle du chromosome 16 Syndrome FOXG1 dû à une microdélétion 14q12 Syndrome de microdélétion 12p12.1 Syndrome du chromosome 18 en anneau Trisomie 18p Syndrome 48,XXYY Polyploïdie Syndrome de Prader-Willi dû à une délétion 15q11q13 d'origine paternelle Trisomie 12 en mosaïque Anomalie du chromosome 7 Délétion partielle du bras long du chromosome 7 Syndrome de délétion Xp21 Délétion distale 15q Délétion distale 14q Délétion partielle du chromosome 1 Duplication partielle du bras long du chromosome 16 Monosomie 13q34 Syndrome du chromosome 19 en anneau Délétion partielle du bras court du chromosome 6 Syndrome de microdélétion 4q21 Disomie uniparentale maternelle du chromosome 16 Syndrome de déficience intellectuelle associé à DYRK1A dû à une microdélétion 21q22.13-q22.2 Syndrome de duplication 8p23.1 Disomie uniparentale du chromosome 13 Délétion partielle du bras long du chromosome 5 Syndrome de microdélétion 5q14.3 Pentasomie X Syndrome de microdélétion 14q24.1q24.3 Syndrome de microdélétion 17q11 Délétion distale 12p Trisomie 12p Syndrome de Prader-Willi dû à une délétion 15q11q13 d'origine paternelle de type 1 Duplication distale 18q Délétion partielle du chromosome X Anomalie du chromosome 17 Anomalie des autosomes Syndrome de délétion 21q Syndrome de microdélétion 1p31p32 Pied bot familial dû à une microduplication 17q23.1q23.2 Délétion distale 17q Syndrome de microduplication 5p13 Anomalie du 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