Screening for 22q11 deletion syndrome among patients with congenital heart defects

Rosa, Rafael Fabiano Machado; Rosa, Rosana Cardoso Manique; Trevisan, Patrícia; Graziadio, Carla; Varella‐Garcia, Marileila; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo Gazzola

doi:10.1590/1516-3180.2014.1322655

Cited by 2 publications

(1 citation statement)

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“…The concomitance rate (86%) of 22q11.2 deletion and heart defect (mainly TOF) found in the present study clearly exceeds previous estimates but agrees with similar findings in a larger sample of Mexican patients and may therefore be a reliable predictor of the deletion in our population 7,8 . These data contrast with the low rate of 22q11.2 deletion found in Brazilian patients with unselected heart defects 9 . The lack of 10p13p14 deletions in our study can be ascribed to the rarity of this imbalance, the reduced sample size, and our selection criteria.…”

Section: Discussioncontrasting

confidence: 88%

22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features.

Velazco¹,

Ramírez²,

Velázquez³

et al. 2018

Colomb Med

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Introduction: Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies. Objective: We looked for a 22q11.2 deletion in Mexican patients with craniofacial dysmorphisms suggestive of DiGeorge or velocardiofacial syndromes and at least one major phenotypic feature (cardiac anomaly, immune deficiency, palatal defects or development delay). Methods: A prospective study of 39 patients recruited in 2012-2015 at the Instituto Mexicano del Seguro Social at Guadalajara, Mexico. The patients with velocardiofacial syndrome-like features or a confirmed tetralogy of Fallot (TOF) or complex cardiopathy were studied by G-banding and fluorescence in situ hybridization (FISH) with a dual TUPLE1(HIRA)/ARSA or TUPLE1(22q11)/22q13(SHANK3) probe, six patients without the 22q11.2 deletion (arbitrarily selected) were tested with the dual DiGeorge II (10p14)/D10Z1 probe. Results: Twenty-two patients (7 males and 15 females) had the 22q11.2 deletion and 17/39 did not have it; no patient had a 10p loss. Among the 22 deleted patients, 19 had congenital heart disease (mostly TOF). Twelve patients without deletion had heart defects such as TOF (4/12), isolate ventricular septal defect (2/12) or other disorders (6/12). Conclusion: In our small sample about ~56% of the patients, regardless of the clinical diagnosis, had the expected 22q11.2 deletion. We remark the importance of early cytogenetic diagnosis in order to achieve a proper integral management of the patients and their families.

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Section: Discussioncontrasting

confidence: 88%