SE-ATLAS

Délétion partielle du bras court du chromosome X Syndrome de microdélétion 2q24 Tétrasomie 12p Délétion partielle du bras court du chromosome 20 Disomie uniparentale du chromosome 14 Monosomie 18q Anomalie du nombre de chromosome X Syndrome d'Alagille dû à une microdélétion 20p12 Tétraploïdie Isochromosome Y Duplication partielle du bras court du chromosome 10 Anomalie du chromosome 13 Isochromosomie Yq Syndrome du chromosome 4 en anneau Duplication/triplication partielle du bras court du chromosome 5 Trisomie 1q Duplication distale 2p Duplication partielle du chromosome 2 Délétion partielle du bras long du chromosome 12 Duplication partielle du bras long du chromosome 6 Trisomie 14 en mosaïque Syndrome de microduplication 7q11.23 Délétion partielle du bras long du chromosome 16 Syndrome du chromosome 3 en anneau Syndrome de microdélétion 6p22 Syndrome de déficience intellectuelle-cardiopathie congénitale-fente palatine dû à une microdélétion 15q14 Syndrome de duplication inversée du chromosome 15 Syndrome de microduplication 15q11q13 Duplication partielle du bras court du chromosome 3 Thrombocytopénie type Paris-Trousseau Délétion partielle du bras court du chromosome 18 Délétion partielle du chromosome 5 Délétion partielle du bras long du chromosome 14 Syndrome de Rubinstein-Taybi Trisomie 22 en mosaïque Anomalie du chromosome Y Dysgénésie gonadique mixte 45,X/46,XY Syndrome du chromosome 6 en anneau Duplication partielle du bras court du chromosome 8 Anomalie du chromosome 8 Trisomie 4p Duplication distale 11q Duplication distale 1p36 Duplication partielle du bras long du chromosome 4 Disomie uniparentale maternelle du chromosome 22 Trisomie X Délétion partielle du bras court du chromosome 16 Monosomie distale 7q36 Syndrome de microdélétion 17p13.3 distale Syndrome associé à SATB2 dû à un réarrangement chromosomique Duplication partielle du chromosome 16 Syndrome de microduplication 17q21.31 Syndrome du chromosome 2 en anneau Duplication partielle du chromosome 8 Syndrome de microduplication 1q21.1 Anomalie du chromosome 2 Tétrasomie 18p Disomie uniparentale paternelle du chromosome 6 Duplication partielle du bras court du chromosome 6 Disomie uniparentale du chromosome 21 Syndrome de Turner par anomalies de structure du chromosome X Anomalie du nombre de chromosome Y Duplication partielle du bras long du chromosome 2 Syndrome du chromosome 7 en anneau Anomalie du chromosome 18 Syndrome de microdélétion 2p21 sans cystinurie Délétion partielle du bras long du chromosome 11 Délétion partielle du bras court du chromosome 12 Duplication distale 14q Monosomie 9q22.3 Duplication/triplication partielle du chromosome 5 Syndrome du chromosome Y en anneau Syndrome de microduplication 4p16.3 Syndrome de microduplication 20q11.2 Monosomie X Syndrome de microdélétion 14q11.2 Tétrasomie 21 Délétion partielle du chromosome 18 Délétion distale 3p Monosomie 22 Trisomie 17p Anomalie du chromosome X Syndrome de Williams Triploïdie Duplication distale 16q Disomie uniparentale du chromosome 7 Délétion partielle du bras court du chromosome 10 Syndrome de microdélétion 1q44 Duplication partielle du bras long du chromosome 20 Syndrome de microdélétion 7q31 Syndrome de microdélétion 16p11.2 distale Délétion partielle du bras long du 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 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 Partial duplication of the long arm of chromosome 5 Distal deletion 4q Partial deletion of the short arm of chromosome 17 Wolf-Hirschhorn syndrome Maternal uniparental disomy of chromosome 2 Cat-eye syndrome Deletion 5q35 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 6q16 microdeletion syndrome Anomaly of chromosome 5 Partial duplication of the short arm of chromosome 7 Trichorhinophalangeal syndrome type 2 6q terminal deletion syndrome Partial duplication of the short arm of chromosome 2 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 3q26q27 microdeletion syndrome Anomaly of chromosome 21 Mosaic trisomy 5 Partial deletion of the long arm of chromosome 13 47,XYY syndrome Ring chromosome 14 syndrome Proximal 16p11.2 microdeletion syndrome 17p11.2 microduplication syndrome 20p13 microdeletion syndrome Mosaic trisomy 7 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Distal duplication 5q Mosaic trisomy 10 Partial duplication of the long arm of chromosome 3 Partial deletion of chromosome 10 Monosomy 9p Monosomy 5p Partial duplication of the long arm of chromosome 22 Distal deletion 10q Partial deletion of the short arm of chromosome 11 2q32q33 microdeletion syndrome X chromosome number anomaly with male phenotype 17q12 microdeletion syndrome Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Maternal uniparental disomy of chromosome 9 19p13.13 microdeletion syndrome Ring chromosome 17 syndrome Partial duplication of the long arm of chromosome 1 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 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