research data . Dataset . 2019

In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?

Motahari, Zahra; Moody, Sally Ann; Maynard, Thomas Michael; LaMantia, Anthony-Samuel;
  • Published: 08 Jun 2019
  • Publisher: Figshare
Abstract
Abstract Background 22q11.2 deletion syndrome (22q11DS), a copy number variation (CNV) disorder, occurs in approximately 1:4000 live births due to a heterozygous microdeletion at position 11.2 (proximal) on the q arm of human chromosome 22 (hChr22) (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011). This disorder was known as DiGeorge syndrome, Velo-cardio-facial syndrome (VCFS) or conotruncal anomaly face syndrome (CTAF) based upon diagnostic cardiovascular, pharyngeal, and craniofacial anomalies (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011; Burn et al., J Med Genet 30:822-4, 1993) before this phenotypic spectrum was associated with 22q11.2 CNVs. S...
Subjects
free text keywords: Biophysics, Medicine, Genetics, Molecular Biology, Developmental Biology, Cancer, Hematology, 110309 Infectious Diseases, Computational Biology, FOS: Biological sciences, FOS: Health sciences
Download fromView all 3 versions
figshare
Dataset . 2019
Provider: Datacite
figshare
Dataset . 2019
Provider: Datacite
Abstract
Abstract Background 22q11.2 deletion syndrome (22q11DS), a copy number variation (CNV) disorder, occurs in approximately 1:4000 live births due to a heterozygous microdeletion at position 11.2 (proximal) on the q arm of human chromosome 22 (hChr22) (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011). This disorder was known as DiGeorge syndrome, Velo-cardio-facial syndrome (VCFS) or conotruncal anomaly face syndrome (CTAF) based upon diagnostic cardiovascular, pharyngeal, and craniofacial anomalies (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011; Burn et al., J Med Genet 30:822-4, 1993) before this phenotypic spectrum was associated with 22q11.2 CNVs. S...
Subjects
free text keywords: Biophysics, Medicine, Genetics, Molecular Biology, Developmental Biology, Cancer, Hematology, 110309 Infectious Diseases, Computational Biology, FOS: Biological sciences, FOS: Health sciences
Download fromView all 3 versions
figshare
Dataset . 2019
Provider: Datacite
figshare
Dataset . 2019
Provider: Datacite
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