Inherited Partial Trisomy 8q (22 → qter)

A patient with interstitial deletion of the short arm of chromosome 3 (pter→p21.2::p12→qter) and a CHARGE-like phenotype

“…Clementi et al [1991] described two unrelated patients with CHARGE syndrome and an unbalanced translocation with monosomy of the terminal segment of 18q and a duplication of chromosome 2 (q37.3 → qter) in one patient and a monosomy of the segment p25.1 → pter of chromosome 3 and monosomy of the long arm of chromosome 22 in the other. Townes and White [1978] described a patient with CHARGE syndrome and a duplication 8q with other findings not described in this association. Shroff et al [1981] described a boy with manifestations of CHARGE and deletion of 4q31, and Hurst et al [1991] described a patient with a balanced translocation between the centromeric regions of chromosomes 6 and 8 and CHARGE syndrome.…”

Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome

“…At present, a chromosomal cause is excluded because cytogenetic analysis in 794155 cases invariably disclosed normal findings. In only a single isolated case was a trisomy 8q observed (Townes and White, 1978); however, this boy had other findings not described in the CHARGE association (bifid tongue, thymus and gallbladder agenesis, cystic kidney).…”

Truncus arteriosus and duplication 8q

“…Conotruncal heart defects described in patients with duplication 8q include tetralogy of Fallot, double outlet right ventricle, and anomalies of the aortic arch [Townes and White, 1978; Donnenfeld et al, 1990; Gelb et al, 1991]. To our knowledge, our patient is the first report of truncus arteriosus in a patients with duplication 8q.…”

“…Interestingly, truncus arteriosus type A3 has been diagnosed in our patient with duplication 8q, suggesting that also the long arm of chromosome 8 may contain genes that could be involved in the same pathogenetic mechanism. Additionally, some of the reported patients with duplication 8q have clinical findings overlapping with those of deletion 22q11.2, such as thymic hypoplasia [Townes and White, 1978], “cuppled ears” [Stengel‐Rutkowsi et al, 1992; our patient]. It must also be considered that truncus arteriosus is a CHD consistently diagnosed in patients with CHARGE association [Koletzko and Majewski, 1984; Lin et al, 1987; Tellier et al, 1998].…”