Trisomy 13 Syndrome [Patauův syndrom]

topical
6
Terms

částečná trisomie 13
částečná trizómie 13
duplikace chromozomu 13
mozaikový Patau syndrom
Patauův syndrom, mozaiková forma
trisomie 13
trisomie 13, mozaika
trisomie chromosomu 13
trisomie chromozomu 13
trizomie 13
trizomie 13. chromozomu
trizomie chromosomu 13
úplná trizomie chromozomu 13

 

Bartholin-Patau Syndrome
Chromosome 13 Duplication
Chromosome 13 Trisomy Syndrome
Complete Trisomy 13 Syndrome
Mosaic Trisomy 13 Syndrome
Patau Syndrome
Patau's Syndrome
Trisomy 13
Trisomy 13 Syndromes

Definition

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.

DUI
D000073839 MeSH Browser
CUI
M000624069
History note
2018(2010)
Public note
2018; TRISOMY 13 SYNDROME was indexed under TRISOMY; CHROMOSOMES, HUMAN, PAIR 13; and CHROMOSOME DISORDERS 2010-2017

C Diseases
C10.597.606.360 Intellectual Disability 1 047
C10.597.606.360.180 Cri-du-Chat Syndrome 11
C10.597.606.360.210 De Lange Syndrome 4
C10.597.606.360.220 Down Syndrome 510
C10.597.606.360.455 X-Linked Intellectual Disability 18
C10.597.606.360.690 Prader-Willi Syndrome 92
C10.597.606.360.700 Rubinstein-Taybi Syndrome 12
C10.597.606.360.835 Trisomy 13 Syndrome 6
C10.597.606.360.969 WAGR Syndrome 3
C10.597.606.360.970 Williams Syndrome 22
C14.240.400 Heart Defects, Congenital 1 561
C14.240.400.021 22q11 Deletion Syndrome 2
C14.240.400.044 Alagille Syndrome 19
C14.240.400.090 Aortic Coarctation 202
C14.240.400.172 Barth Syndrome 6
C14.240.400.200 Cor Triatriatum 3
C14.240.400.210 Coronary Vessel Anomalies 119
C14.240.400.220 Crisscross Heart 1
C14.240.400.280 Dextrocardia 21
C14.240.400.340 Ductus Arteriosus, Patent 108
C14.240.400.395 Ebstein Anomaly 46
C14.240.400.422 Ectopia Cordis 1
C14.240.400.450 Eisenmenger Complex 23
C14.240.400.560 Heart Septal Defects 164
C14.240.400.592 Heterotaxy Syndrome 7
C14.240.400.695 LEOPARD Syndrome 11
C14.240.400.701 Levocardia 2
C14.240.400.725 Marfan Syndrome 105
C14.240.400.787 Noonan Syndrome 52
C14.240.400.849 Tetralogy of Fallot 163
C14.240.400.920 Tricuspid Atresia 11
C14.240.400.960 Trilogy of Fallot 2
C14.240.400.970 Trisomy 13 Syndrome 6
C14.240.400.975 Trisomy 18 Syndrome 5
C14.240.400.980 Turner Syndrome 272
C14.240.400.990 Univentricular Heart 3
C14.280 Heart Diseases 2 873
C14.280.400 Heart Defects, Congenital 1 561
C14.280.400.044 22q11 Deletion Syndrome 2
C14.280.400.090 Aortic Coarctation 202
C14.280.400.172 Barth Syndrome 6
C14.280.400.200 Cor Triatriatum 3
C14.280.400.210 Coronary Vessel Anomalies 119
C14.280.400.220 Crisscross Heart 1
C14.280.400.280 Dextrocardia 21
C14.280.400.340 Ductus Arteriosus, Patent 108
C14.280.400.395 Ebstein Anomaly 46
C14.280.400.450 Eisenmenger Complex 23
C14.280.400.560 Heart Septal Defects 164
C14.280.400.592 Heterotaxy Syndrome 7
C14.280.400.695 LEOPARD Syndrome 11
C14.280.400.701 Levocardia 2
C14.280.400.725 Marfan Syndrome 105
C14.280.400.787 Noonan Syndrome 52
C14.280.400.849 Tetralogy of Fallot 163
C14.280.400.920 Tricuspid Atresia 11
C14.280.400.960 Trilogy of Fallot 2
C14.280.400.970 Trisomy 13 Syndrome 6
C14.280.400.975 Trisomy 18 Syndrome 5
C14.280.400.980 Turner Syndrome 272
C14.280.400.990 Univentricular Heart 3
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 33
C16.131.077.137 Bloom Syndrome 11
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 21
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 8
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 35
C16.131.077.717 Polycystic Kidney Diseases 83
C16.131.077.730 Prader-Willi Syndrome 92
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.970 Zellweger Syndrome 10
C16.131.240.400 Heart Defects, Congenital 1 561
C16.131.240.400.021 22q11 Deletion Syndrome 2
C16.131.240.400.044 Alagille Syndrome 19
C16.131.240.400.090 Aortic Coarctation 202
C16.131.240.400.118 Aortico-Ventricular Tunnel 1
C16.131.240.400.172 Barth Syndrome 6
C16.131.240.400.186 Bicuspid Aortic Valve Disease 17
C16.131.240.400.200 Cor Triatriatum 3
C16.131.240.400.210 Coronary Vessel Anomalies 119
C16.131.240.400.220 Crisscross Heart 1
C16.131.240.400.280 Dextrocardia 21
C16.131.240.400.340 Ductus Arteriosus, Patent 108
C16.131.240.400.395 Ebstein Anomaly 46
C16.131.240.400.422 Ectopia Cordis 1
C16.131.240.400.450 Eisenmenger Complex 23
C16.131.240.400.560 Heart Septal Defects 164
C16.131.240.400.592 Heterotaxy Syndrome 7
C16.131.240.400.625 Hypoplastic Left Heart Syndrome 34
C16.131.240.400.685 LEOPARD Syndrome 11
C16.131.240.400.701 Levocardia 2
C16.131.240.400.715 Long QT Syndrome 217
C16.131.240.400.720 Marfan Syndrome 105
C16.131.240.400.784 Noonan Syndrome 52
C16.131.240.400.817 Quadricuspid Aortic Valve
C16.131.240.400.849 Tetralogy of Fallot 163
C16.131.240.400.915 Transposition of Great Vessels 109
C16.131.240.400.920 Tricuspid Atresia 11
C16.131.240.400.960 Trilogy of Fallot 2
C16.131.240.400.965 Trisomy 13 Syndrome 6
C16.131.240.400.968 Trisomy 18 Syndrome 5
C16.131.240.400.970 Turner Syndrome 272
C16.131.240.400.975 Univentricular Heart 3
C16.131.240.400.980 Wolff-Parkinson-White Syndrome 85
C16.131.260 Chromosome Disorders 259
C16.131.260.019 22q11 Deletion Syndrome 2
C16.131.260.040 Angelman Syndrome 35
C16.131.260.190 Cri-du-Chat Syndrome 11
C16.131.260.210 De Lange Syndrome 4
C16.131.260.260 Down Syndrome 510
C16.131.260.380 Holoprosencephaly 8
C16.131.260.700 Prader-Willi Syndrome 92
C16.131.260.790 Rubinstein-Taybi Syndrome 12
C16.131.260.830 Sex Chromosome Disorders 11
C16.131.260.870 Silver-Russell Syndrome 3
C16.131.260.887 Smith-Magenis Syndrome 2
C16.131.260.905 Sotos Syndrome 4
C16.131.260.923 Trisomy 13 Syndrome 6
C16.131.260.932 Trisomy 18 Syndrome 5
C16.131.260.940 WAGR Syndrome 3
C16.131.260.970 Williams Syndrome 22
C16.320.180 Chromosome Disorders 259
C16.320.180.019 22q11 Deletion Syndrome 2
C16.320.180.040 Angelman Syndrome 35
C16.320.180.190 Cri-du-Chat Syndrome 11
C16.320.180.210 De Lange Syndrome 4
C16.320.180.260 Down Syndrome 510
C16.320.180.380 Holoprosencephaly 8
C16.320.180.700 Prader-Willi Syndrome 92
C16.320.180.790 Rubinstein-Taybi Syndrome 12
C16.320.180.830 Sex Chromosome Disorders 11
C16.320.180.870 Silver-Russell Syndrome 3
C16.320.180.887 Smith-Magenis Syndrome 2
C16.320.180.905 Sotos Syndrome 4
C16.320.180.923 Trisomy 13 Syndrome 6
C16.320.180.932 Trisomy 18 Syndrome 5
C16.320.180.940 WAGR Syndrome 3
C16.320.180.970 Williams Syndrome 22