ID

45627

Description

Principal Investigator: Bernice E. Morrow, PhD, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA MeSH: DiGeorge Syndrome,22q11 Deletion Syndrome,Tetralogy of Fallot https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001339 The study is designed to identify genetic modifiers of cardiovascular defects in subjects with 22q11.2 deletion syndrome (22q11.2DS), also known as DiGeorge syndrome or velo-cardio-facial syndrome. Affymetrix 6.0 arrays were processed on 1,480 subjects with known cardiovascular anomalies or with normal structures, all with 22q11.2DS. One sample is a duplicate so it was removed. There are 1,472 samples total of unrelated, de-identified, probands. Over 90% have the same sized 3 million base pair deletion flanked by low copy repeats (LCR22) A and D, while approximately 6% have nested A to B deletions. The rest have other nested deletions, that include a deletion in the vicinity of TBX1 (between LCR22 A and B). A subset of the data was used to identify copy number variations serving as modifiers. Some data were previously published by Dr. Emanuel's team at Children's Hospital of Philadelphia in PA, USA (PMID:26742502; PMID:4896312; PMID:25892112; PMID:4570279). The de-identified DNA data from unrelated subjects come from multiple research sites in the US and Europe as part of the International 22q11.2 Consortium and the International 22q11.2 Brain and Behavior Consortium.

Link

dbGaP study = phs001339

Keywords

Versions (1)
  1. 3/2/23 3/2/23 - Simon Heim
Copyright Holder

Bernice E. Morrow, PhD, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA

Uploaded on

March 2, 2023

DOI

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License

Creative Commons BY 4.0
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dbGaP phs001339 Developmental Mechanisms of Human Congenital Heart Disease

English

Eligibility Criteria

5 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
**Inclusion criteria:**
Description

**Inclusion criteria:**

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
Individuals that sign an informed consent form for genetic research.
Description

Individuals that sign an informed consent form for genetic research.

Data type

boolean

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0742766
UMLS CUI [1,3]
C0243064
Unrelated de-identified individuals (probands) with 22q11.2DS.
Description

Unrelated de-identified individuals (probands) with 22q11.2DS.

Data type

boolean

Alias
UMLS CUI [1,1]
C0445356
UMLS CUI [1,2]
C4684638
UMLS CUI [1,3]
C0220704
UMLS CUI [1,4]
C0702111
A clinical diagnosis of 22q11.2DS by a medical professional.
Description

A clinical diagnosis of 22q11.2DS by a medical professional.

Data type

boolean

Alias
UMLS CUI [1,1]
C0332140
UMLS CUI [1,2]
C0220704
UMLS CUI [1,3]
C1704312
Molecular testing or FISH test positive for the presence of a 22q11.2 deletion. There are 4 blocks of low copy repeats that span the region associated with the syndrome, and they are LCR22-A, B, C and D. Those with LCR22A-B, A-C and A-D are included.
Description

Molecular testing or FISH test positive for the presence of a 22q11.2 deletion. There are 4 blocks of low copy repeats that span the region associated with the syndrome, and they are LCR22-A, B, C and D. Those with LCR22A-B, A-C and A-D are included.

Data type

boolean

Alias
UMLS CUI [1,1]
C0752096
UMLS CUI [1,2]
C0162789
UMLS CUI [1,3]
C1514241
UMLS CUI [1,4]
C0012236
UMLS CUI [1,5]
C2717928
UMLS CUI [1,6]
C5236343
UMLS CUI [1,7]
C1512693
Existence of an echocardiogram summary report or cardiology report and a diagnosis of a particular defect or presence of normal structures.
Description

Existence of an echocardiogram summary report or cardiology report and a diagnosis of a particular defect or presence of normal structures.

Data type

boolean

Alias
UMLS CUI [1,1]
C0013516
UMLS CUI [1,2]
C0242482
UMLS CUI [1,3]
C0583557
UMLS CUI [1,4]
C0011900
UMLS CUI [1,5]
C1457869
UMLS CUI [1,6]
C0700276
UMLS CUI [1,7]
C0205272
Both sexes, all races and ethnicities are included.
Description

Both sexes, all races and ethnicities are included.

Data type

boolean

Alias
UMLS CUI [1,1]
C0444868
UMLS CUI [1,2]
C0079399
UMLS CUI [1,3]
C0034510
UMLS CUI [1,4]
C0015031
UMLS CUI [1,5]
C1512693
**Exclusion criteria:**
Description

**Exclusion criteria:**

Data type

boolean

Alias
UMLS CUI [1,1]
C0680251
Individuals that do not sign an informed consent form for genetic research.
Description

Individuals that do not sign an informed consent form for genetic research.

Data type

boolean

Alias
UMLS CUI [1,1]
C0742765
UMLS CUI [1,2]
C0243064
Affected or unaffected relatives of 22q11.2DS cases, are excluded.
Description

Affected or unaffected relatives of 22q11.2DS cases, are excluded.

Data type

boolean

Alias
UMLS CUI [1,1]
C0220704
UMLS CUI [1,2]
C0392760
UMLS CUI [1,3]
C2986417
UMLS CUI [1,4]
C0680251
Subjects with LCR22B-D or C-D or atypical distal deletions to LCR22D on 22q11.2.
Description

Subjects with LCR22B-D or C-D or atypical distal deletions to LCR22D on 22q11.2.

Data type

boolean

Alias
UMLS CUI [1,1]
C0681850
UMLS CUI [1,2]
C3846158
UMLS CUI [1,3]
C0205182
UMLS CUI [1,4]
C1442161
Subjects with no cardiovascular phenotype information.
Description

Subjects with no cardiovascular phenotype information.

Data type

boolean

Alias
UMLS CUI [1,1]
C0031437
UMLS CUI [1,2]
C3887460
UMLS CUI [1,3]
C0681850
Cases have a heart or aortic arch defect. Controls have normal structures. Note that arterial branches from the aortic arch are not always identified by echocardiography. Newborns or young infants with a small ventricular septal defect, persistent foramen ovale, patient ductus arteriosus at birth or in early infancy, but that resolved spontaneously are noted but are not criteria for being termed a case.
Description

Cases have a heart or aortic arch defect. Controls have normal structures. Note that arterial branches from the aortic arch are not always identified by echocardiography. Newborns or young infants with a small ventricular septal defect, persistent foramen ovale, patient ductus arteriosus at birth or in early infancy, but that resolved spontaneously are noted but are not criteria for being termed a case.

Data type

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C5680872
UMLS CUI [1,3]
C0018798
UMLS CUI [2,1]
C0009932
UMLS CUI [2,2]
C0700276
UMLS CUI [2,3]
C0205272
UMLS CUI [3,1]
C0013516
UMLS CUI [3,2]
C0021289
UMLS CUI [3,3]
C4314770
UMLS CUI [3,4]
C0016522
UMLS CUI [3,5]
C0013274
UMLS CUI [3,6]
C3714811
UMLS CUI [3,7]
C0205359
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Similar models

Eligibility Criteria

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
**Inclusion criteria:**
Item
**Inclusion criteria:**
boolean
C1512693 (UMLS CUI [1,1])
Individuals that sign an informed consent form for genetic research.
Item
Individuals that sign an informed consent form for genetic research.
boolean
C0021430 (UMLS CUI [1,1])
C0742766 (UMLS CUI [1,2])
C0243064 (UMLS CUI [1,3])
Unrelated de-identified individuals (probands) with 22q11.2DS.
Item
Unrelated de-identified individuals (probands) with 22q11.2DS.
boolean
C0445356 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
C0220704 (UMLS CUI [1,3])
C0702111 (UMLS CUI [1,4])
A clinical diagnosis of 22q11.2DS by a medical professional.
Item
A clinical diagnosis of 22q11.2DS by a medical professional.
boolean
C0332140 (UMLS CUI [1,1])
C0220704 (UMLS CUI [1,2])
C1704312 (UMLS CUI [1,3])
Molecular testing or FISH test positive for the presence of a 22q11.2 deletion. There are 4 blocks of low copy repeats that span the region associated with the syndrome, and they are LCR22-A, B, C and D. Those with LCR22A-B, A-C and A-D are included.
Item
Molecular testing or FISH test positive for the presence of a 22q11.2 deletion. There are 4 blocks of low copy repeats that span the region associated with the syndrome, and they are LCR22-A, B, C and D. Those with LCR22A-B, A-C and A-D are included.
boolean
C0752096 (UMLS CUI [1,1])
C0162789 (UMLS CUI [1,2])
C1514241 (UMLS CUI [1,3])
C0012236 (UMLS CUI [1,4])
C2717928 (UMLS CUI [1,5])
C5236343 (UMLS CUI [1,6])
C1512693 (UMLS CUI [1,7])
Existence of an echocardiogram summary report or cardiology report and a diagnosis of a particular defect or presence of normal structures.
Item
Existence of an echocardiogram summary report or cardiology report and a diagnosis of a particular defect or presence of normal structures.
boolean
C0013516 (UMLS CUI [1,1])
C0242482 (UMLS CUI [1,2])
C0583557 (UMLS CUI [1,3])
C0011900 (UMLS CUI [1,4])
C1457869 (UMLS CUI [1,5])
C0700276 (UMLS CUI [1,6])
C0205272 (UMLS CUI [1,7])
Both sexes, all races and ethnicities are included.
Item
Both sexes, all races and ethnicities are included.
boolean
C0444868 (UMLS CUI [1,1])
C0079399 (UMLS CUI [1,2])
C0034510 (UMLS CUI [1,3])
C0015031 (UMLS CUI [1,4])
C1512693 (UMLS CUI [1,5])
**Exclusion criteria:**
Item
**Exclusion criteria:**
boolean
C0680251 (UMLS CUI [1,1])
Individuals that do not sign an informed consent form for genetic research.
Item
Individuals that do not sign an informed consent form for genetic research.
boolean
C0742765 (UMLS CUI [1,1])
C0243064 (UMLS CUI [1,2])
Affected or unaffected relatives of 22q11.2DS cases, are excluded.
Item
Affected or unaffected relatives of 22q11.2DS cases, are excluded.
boolean
C0220704 (UMLS CUI [1,1])
C0392760 (UMLS CUI [1,2])
C2986417 (UMLS CUI [1,3])
C0680251 (UMLS CUI [1,4])
Subjects with LCR22B-D or C-D or atypical distal deletions to LCR22D on 22q11.2.
Item
Subjects with LCR22B-D or C-D or atypical distal deletions to LCR22D on 22q11.2.
boolean
C0681850 (UMLS CUI [1,1])
C3846158 (UMLS CUI [1,2])
C0205182 (UMLS CUI [1,3])
C1442161 (UMLS CUI [1,4])
Subjects with no cardiovascular phenotype information.
Item
Subjects with no cardiovascular phenotype information.
boolean
C0031437 (UMLS CUI [1,1])
C3887460 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
Cases have a heart or aortic arch defect. Controls have normal structures. Note that arterial branches from the aortic arch are not always identified by echocardiography. Newborns or young infants with a small ventricular septal defect, persistent foramen ovale, patient ductus arteriosus at birth or in early infancy, but that resolved spontaneously are noted but are not criteria for being termed a case.
Item
Cases have a heart or aortic arch defect. Controls have normal structures. Note that arterial branches from the aortic arch are not always identified by echocardiography. Newborns or young infants with a small ventricular septal defect, persistent foramen ovale, patient ductus arteriosus at birth or in early infancy, but that resolved spontaneously are noted but are not criteria for being termed a case.
boolean
C1706256 (UMLS CUI [1,1])
C5680872 (UMLS CUI [1,2])
C0018798 (UMLS CUI [1,3])
C0009932 (UMLS CUI [2,1])
C0700276 (UMLS CUI [2,2])
C0205272 (UMLS CUI [2,3])
C0013516 (UMLS CUI [3,1])
C0021289 (UMLS CUI [3,2])
C4314770 (UMLS CUI [3,3])
C0016522 (UMLS CUI [3,4])
C0013274 (UMLS CUI [3,5])
C3714811 (UMLS CUI [3,6])
C0205359 (UMLS CUI [3,7])
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