The evaluation of DiGeorge syndrome gene deletion using molecular cytogenetic techniques

Bahamat, Abeer A.; Lary, Sahira; Zada, Abdul Ali Peer; Al-Qahtani, Mohammed Hussein

doi:10.1186/1471-2164-15-s2-p30

Cited by 2 publications

(1 citation statement)

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“…By the late 1990s, doctors were routinely using FISH to screen newborns with conotruncal cardiac anomalies for DGS 7. FISH is now replaced by comparative genomic hybridisation (CGH) to interrogate the entire genome rather than just 22q11.2 region 8. Regardless of the testing modality, most patients in high-resource countries who were born in the last 20–25 years who had conotruncal cardiac anomalies or other concerning features of DGS had genetic testing available to them at birth.…”

Section: Discussionmentioning

confidence: 99%

DiGeorge syndrome: consider the diagnosis

2022

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DiGeorge syndrome (DGS) is caused by a chromosomal microdeletion at 22q11.2 that results in impaired development of the pharyngeal pouch system. Patients with DGS may have developmental abnormalities of craniofacial structures, parathyroid glands, thymus and cardiac outflow tract. Doctors have been routinely testing for DGS in newborns with conotruncal cardiac anomalies since the late 1990s; before then, however, they relied on complex diagnostic criteria and the disease was often missed. Adults born with conotruncal defects before the late 1990s may have undiagnosed DGS. We present one such case: a 35-year-old woman with a cardiac diagnosis of tetralogy of Fallot and unilateral absence of a pulmonary arter who was found to have DGS. Identifying DGS in adults is important both for disease management and genetic counselling. Our case emphasises the importance of screening for DGS in adults who were born with conotruncal cardiac abnormalities before widespread neonatal testing became common.

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Section: Discussionmentioning

confidence: 99%