Increased paternal age in CHARGE association

Abstract

The acronym CHARGE refers to a non‐random clustering of congenital malformations whose cause remains unknown. Here, we report on a series of 41 patients and find a significant increase in mean paternal age of birth of CHARGE patients (33.7±8 years) compared with the control population (30.8±5 years). In contrast, maternal age was not statistically different in patients and controls. These data suggest the possible role of a dominant mutation or, less likely, a subtle chromosomal abnormality in CHARGE association.

CHARGE syndrome together with middle aortic syndrome

“…Ektopia kordis ile ek konjenital kalp hastalıkları birlikteliği sıktır (%80.2). Sıklıkla ventriküler septal defekt, atriyal septal defekt, fallot tetralojisi, sol ventrikül divertikülü ve pulmoner stenoz görülür (10). Bizim olgumuzda ise interatriyal septumda, sekundum atriyal septal defekt vardı.…”

“…Bizim olgumuzda ise interatriyal septumda, sekundum atriyal septal defekt vardı. Ayrıca ek anomali olarak başta omfalosel olmak üzere, gasroşizis, skolyoz, yarık damak-dudak, hipoplastik akciğer ve hidrosefali de görülebilir (10,11). Bizim olgumuzda en sık görülen ekstrakardiyak anomali olan omfalosel vardı.…”

A 2 Month Old Baby With Charge Syndrome : Case Report

“…There are also studies implicating either some teratogenic agents received during pregnancy or increased paternal age as the causes of the CHARGE syndrome [16,17]. The mother of our case was young and had no history of drug,alcohol or cigarette use.…”

“…Most of the abnormalities associated with the CHARGE syndrome are difficult to diagnose antenatally through ultrasound unless there is polyhydramnios or risk factors raising the suspicion of CHARGE [17]. However, focused ultrasound for detection of external ear anomalies, choanal atresia or semicircular canal agenesis may increase prenatal detection rate [18].…”

“…However, focused ultrasound for detection of external ear anomalies, choanal atresia or semicircular canal agenesis may increase prenatal detection rate [18]. Fetal echocardiography may be helpful in the detection of cardiac anomalies [17,18]. If there is a high suspicion of CHARGE, reliable prenatal detection of CHD7 mutation is possible by chorionic villus sampling or amniocentesis [19,20].…”