SciELO - Scientific Electronic Library Online

 
vol.49 número3Análisis de los estilos de vida y la mineralización ósea en una población de adultos jóvenes españolesCaracterización polimórfica de la paraoxonasa-1 en el infarto cerebral aterotrombótico de una poblacion mexicana: estudio piloto índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados

Revista

Articulo

Indicadores

Links relacionados

  • En proceso de indezaciónCitado por Google
  • No hay articulos similaresSimilares en SciELO
  • En proceso de indezaciónSimilares en Google

Compartir


Colombia Médica

versión On-line ISSN 1657-9534

Resumen

RAMIREZ-VELAZCO, Azubel et al. 22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features. Colomb. Med. [online]. 2018, vol.49, n.3, pp.219-222. ISSN 1657-9534.  https://doi.org/10.25100/cm.v49i2.3402.

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.

Palabras clave : 22q11.2 deletion; DiGeorge syndrome; velocardiofacial syndrome; congenital heart defects.; Tetralogy of Fallot; craniofacial abnormalities.

        · resumen en Español     · texto en Español | Inglés     · Español ( pdf ) | Inglés ( pdf )