Detecting 22q11.2 Deletion Syndrome in Newborns With Low T Cell Receptor Excision Circles From Severe Combined Immunodeficiency Screening

Detecting 22q11.2 Deletion Syndrome in Newborns With Low T Cell Receptor Excision Circles From Severe Combined Immunodeficiency Screening

Purpose Of the Study: To evaluate the prevalence of 22q11.2 deletion syndrome within a set of newborns screening positive for low T-cell receptor excision circles (TRECs) by assessing a patient's copy number of the TBX1 and/or HIRA genes, which are located in the 22q11.2 region. Study Populatio...

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Veröffentlicht in:Pediatrics (Evanston) 2019-12, Vol.144 (Supplement_1), p.S60-S60
Hauptverfasser: Miller, Jennifer M., Forbes, Lisa
Format: Artikel
Sprache:eng
Schlagworte:
Blood
Clonal deletion
Copy number
Deoxyribonucleic acid
DNA
DNA microarrays
Lymphocytes T
Medical screening
Neonates
Newborn babies
Patients
Pediatrics
Polymerase chain reaction
Population studies
Severe combined immunodeficiency
T cell receptors
Tbx1 protein
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Zusammenfassung:Purpose Of the Study: To evaluate the prevalence of 22q11.2 deletion syndrome within a set of newborns screening positive for low T-cell receptor excision circles (TRECs) by assessing a patient's copy number of the TBX1 and/or HIRA genes, which are located in the 22q11.2 region. Study Population: This population evaluated 486 newborns born in Taiwan who were diagnosed with low TRECs (
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.2019-2461LLLL