SE-ATLAS

Délétion partielle du bras court du chromosome 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 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 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 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 Syndrome de Potocki-Shaffer Disomie uniparentale d'origine paternelle du chromosome 20 Syndrome de microdélétion 3q29 Syndrome de microduplication 16p13.11 Syndrome de duplication 22q11.2 Syndrome du chromosome 15 en anneau Syndrome de syndactylie-nystagmus dû à une microduplication 2q31.1 Duplication partielle du bras court du chromosome 16 Anomalie du chromosome 3 Délétion distale 9p Anomalie des chromosomes X et Y Délétion partielle du bras long du chromosome 2 Duplication partielle du bras long du chromosome X Syndrome de microdélétion 20q13.33 Triplication distale 15q Syndrome de Temple lié à une microdélétion paternelle 14q32.2 Délétion partielle du bras long du chromosome 18 Anomalie du chromosome 19 Délétion partielle du chromosome 2 Anomalies des gonosomes Duplication distale 22q Duplication partielle du bras long du chromosome 8 Syndrome de duplication/délétion inversée 8p Syndrome de microdélétion 9 q31.1q31.3 Syndrome de duplication Xq28 proximale Duplication partielle du bras long du chromosome 7 Syndrome de microduplication 3q26 Anomalie de structure du chromosome Y Trisomie 8 en mosaïque Syndrome du chromosome 10 en anneau Syndrome de microduplication 16p13.3 Délétion distale 19p Délétion partielle du bras long du chromosome 17 Syndrome de microdélétion 14q22q23 Trisomie 17 en mosaïque Délétion partielle du chromosome 7 Duplication distale 6p Duplication non distale 9q Disomie uniparentale maternelle du chromosome 4 Syndrome de microdélétion 3q27.3 Syndrome de microduplication 3q29 Syndrome de Jacobsen Disomie uniparentale d'origine paternelle du chromosome 1 Syndrome de microdéletion Xp22.3 Syndrome de microduplication 7p22.1 Délétion partielle du bras long du chromosome X Syndrome WAGR Duplication partielle du bras court du chromosome 4 Trisomie 20p Chimère tétragamétique Délétion partielle du bras court du chromosome 19 Duplication/triplication partielle du chromosome 18 Duplication partielle du chromosome 10 Syndrome de microdélétion 16q24.3 Délétion partielle du bras long du chromosome 15 Syndrome de Kagami-Ogata lié à une disomie uniparentale paternelle du chromosome 14 Syndrome du chromosome 12 en anneau Duplication partielle du bras court du chromosome 9 Syndrome de mésomélie-synostoses Duplication distale 2q Syndrome de microdélétion 8p23.1 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 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