22q11 Deletion Syndrome [syndrom delece 22q11]

topical
2
Persistent link   https://www.medvik.cz/link/D058165
Definition

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

DUI
D058165 MeSH Browser
CUI
M0537456
Previous indexing
Chromosome Deletion (1997-2010); Chromosomes, Human, Pair 22 (1997-2010)
History note
2011
Public note
2011

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C05 Musculoskeletal Diseases 1 125
C05.660 Musculoskeletal Abnormalities 107
C05.660.207 Craniofacial Abnormalities 82
C05.660.207.103 22q11 Deletion Syndrome 2
C05.660.207.103.500 DiGeorge Syndrome 43
C05.660.207.207 Cleidocranial Dysplasia 7
C05.660.207.219 Costello Syndrome 3
C05.660.207.231 Craniofacial Dysostosis 28
C05.660.207.240 Craniosynostoses 56
C05.660.207.325 Donohue Syndrome 1
C05.660.207.410 Holoprosencephaly 9
C05.660.207.525 LEOPARD Syndrome 11
C05.660.207.532 Loeys-Dietz Syndrome 7
C05.660.207.536 Megalencephaly 7
C05.660.207.540 Maxillofacial Abnormalities 28
C05.660.207.620 Microcephaly 78
C05.660.207.690 Noonan Syndrome 52
C05.660.207.700 Orofaciodigital Syndromes 7
C05.660.207.707 Plagiocephaly 3
C05.660.207.720 Platybasia 12
C05.660.207.850 Rubinstein-Taybi Syndrome 12
C05.660.207.925 Silver-Russell Syndrome 3
C14 Cardiovascular Diseases 10 552
C14.240 Cardiovascular Abnormalities 91
C14.240.400 Heart Defects, Congenital 1 563
C14.240.400.021 22q11 Deletion Syndrome 2
C14.240.400.021.500 DiGeorge Syndrome 43
C14.240.400.044 Alagille Syndrome 19
C14.240.400.090 Aortic Coarctation 203
C14.240.400.118 Aortico-Ventricular Tunnel 1
C14.240.400.145 Arrhythmogenic Right Ventricular Dysplasia 60
C14.240.400.172 Barth Syndrome 6
C14.240.400.186 Bicuspid Aortic Valve Disease 17
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
C14.240.400.625 Hypoplastic Left Heart Syndrome 34
C14.240.400.660 Isolated Noncompaction of the Ventricular Myocardium 11
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
C14.240.400.818 Quadricuspid Aortic Valve
C14.240.400.849 Tetralogy of Fallot 163
C14.240.400.915 Transposition of Great Vessels 109
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 2 874
C14.280.400 Heart Defects, Congenital 1 563
C14.280.400.044 22q11 Deletion Syndrome 2
C14.280.400.044.500 DiGeorge Syndrome 43
C14.280.400.090 Aortic Coarctation 203
C14.280.400.118 Aortico-Ventricular Tunnel 1
C14.280.400.145 Arrhythmogenic Right Ventricular Dysplasia 60
C14.280.400.172 Barth Syndrome 6
C14.280.400.186 Bicuspid Aortic Valve Disease 17
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
C14.280.400.625 Hypoplastic Left Heart Syndrome 34
C14.280.400.660 Isolated Noncompaction of the Ventricular Myocardium 11
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
C14.280.400.818 Quadricuspid Aortic Valve
C14.280.400.849 Tetralogy of Fallot 163
C14.280.400.915 Transposition of Great Vessels 109
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
C15 Hemic and Lymphatic Diseases 91
C15.604 Lymphatic Diseases 445
C15.604.451 Lymphatic Abnormalities 8
C15.604.451.249 22q11 Deletion Syndrome 2
C15.604.451.249.500 DiGeorge Syndrome 43
C15.604.451.500 Lymphangiectasis, Intestinal 7
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 753
C16.131.077 Abnormalities, Multiple 330
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.019.500 DiGeorge Syndrome 43
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
C16.131.077.133 Beckwith-Wiedemann Syndrome 17
C16.131.077.137 Bloom Syndrome 11
C16.131.077.208 Branchio-Oto-Renal Syndrome 5
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 9
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.477 Isolated Noncompaction of the Ventricular Myocardium 11
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
C16.131.077.633 Nevus, Sebaceous of Jadassohn 7
C16.131.077.662 Oculocerebrorenal Syndrome 9
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.690 Pallister-Hall Syndrome
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
C16.131.077.790 Rubella Syndrome, Congenital 20
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.850 Short Rib-Polydactyly Syndrome 3
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
C16.131.077.899 Trichothiodystrophy Syndromes 1
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
C16.131.077.944 Wolf-Hirschhorn Syndrome
C16.131.077.970 Zellweger Syndrome 10
C16.131.240 Cardiovascular Abnormalities 91
C16.131.240.400 Heart Defects, Congenital 1 563
C16.131.240.400.021 22q11 Deletion Syndrome 2
C16.131.240.400.021.500 DiGeorge Syndrome 43
C16.131.240.400.044 Alagille Syndrome 19
C16.131.240.400.090 Aortic Coarctation 203
C16.131.240.400.118 Aortico-Ventricular Tunnel 1
C16.131.240.400.145 Arrhythmogenic Right Ventricular Dysplasia 60
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
C16.131.240.400.655 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.240.400.685 LEOPARD Syndrome 11
C16.131.240.400.701 Levocardia 2
C16.131.240.400.715 Long QT Syndrome 218
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 260
C16.131.260.019 22q11 Deletion Syndrome 2
C16.131.260.019.500 DiGeorge Syndrome 43
C16.131.260.040 Angelman Syndrome 35
C16.131.260.080 Beckwith-Wiedemann Syndrome 17
C16.131.260.090 Branchio-Oto-Renal Syndrome 5
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 9
C16.131.260.440 Jacobsen Distal 11q Deletion Syndrome 1
C16.131.260.700 Prader-Willi Syndrome 92
C16.131.260.790 Rubinstein-Taybi Syndrome 12
C16.131.260.830 Sex Chromosome Disorders 12
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
C16.131.260.985 Wolf-Hirschhorn Syndrome
C16.131.482 Lymphatic Abnormalities 8
C16.131.482.249 22q11 Deletion Syndrome 2
C16.131.482.249.500 DiGeorge Syndrome 43
C16.131.482.500 Lymphangiectasis, Intestinal 7
C16.131.621 Musculoskeletal Abnormalities 107
C16.131.621.207 Craniofacial Abnormalities 82
C16.131.621.207.103 22q11 Deletion Syndrome 2
C16.131.621.207.103.500 DiGeorge Syndrome 43
C16.131.621.207.207 Cleidocranial Dysplasia 7
C16.131.621.207.231 Craniofacial Dysostosis 28
C16.131.621.207.240 Craniosynostoses 56
C16.131.621.207.410 Holoprosencephaly 9
C16.131.621.207.525 LEOPARD Syndrome 11
C16.131.621.207.532 Megalencephaly 7
C16.131.621.207.540 Maxillofacial Abnormalities 28
C16.131.621.207.620 Microcephaly 78
C16.131.621.207.690 Noonan Syndrome 52
C16.131.621.207.700 Orofaciodigital Syndromes 7
C16.131.621.207.707 Plagiocephaly 3
C16.131.621.207.720 Platybasia 12
C16.131.621.207.850 Rubinstein-Taybi Syndrome 12
C16.320 Genetic Diseases, Inborn 1 215
C16.320.180 Chromosome Disorders 260
C16.320.180.019 22q11 Deletion Syndrome 2
C16.320.180.019.500 DiGeorge Syndrome 43
C16.320.180.040 Angelman Syndrome 35
C16.320.180.080 Beckwith-Wiedemann Syndrome 17
C16.320.180.090 Branchio-Oto-Renal Syndrome 5
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 9
C16.320.180.440 Jacobsen Distal 11q Deletion Syndrome 1
C16.320.180.700 Prader-Willi Syndrome 92
C16.320.180.790 Rubinstein-Taybi Syndrome 12
C16.320.180.830 Sex Chromosome Disorders 12
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
C16.320.180.985 Wolf-Hirschhorn Syndrome
C19 Endocrine System Diseases 887
C19.642 Parathyroid Diseases 93
C19.642.482 Hypoparathyroidism 71
C19.642.482.500 22q11 Deletion Syndrome 2
C19.642.482.500.500 DiGeorge Syndrome 43

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