Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21)

Abstract

We report on a case of an interstitial duplication of 11q in a patient with developmental delay and in his moderately delayed mother. Partial trisomy 11q is well documented in the literature with most cases involving the distal region of the long arm of chromosome 11. In almost all cases, this trisomy is associated with monosomy of the second chromosome involved in the parental translocation. The most common, partial 11q and 22q trisomy syndrome, is observed in offspring of t(11;22)(q23;q11.2) carriers from a 3:1 tertiary trisomic malsegregation. We found only two previous reports of pure partial trisomy 11q in the literature. Comparison of the clinical findings of our patient and another single published report of duplication in the same segment of chromosome 11 suggests that the duplication of this region manifests mild phenotypic abnormalities.

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature

“…The duplication previously reported by Yelavarthi and Zunich [2004] closely resembles our case but is associated with a mild developmental disability. It is difficult to conclude that all the abnormal findings in that patient and his mother, who also had the same duplicated segment, were due to the duplication of chromosome 11q.…”

“…This implies that the phenotype is probably caused by the duplication of the segment distal to 11q22. The other three cases involve duplications that overlap with our patient's [Legius et al, 1996;Zhao et al, 2003;Yelavarthi and Zunich, 2004] (Table I). These cases also have findings in common, including minor dysmorphic features and mental retardation.…”

“…A total of seven cases of isolated 11q duplication with no other chromosomal involvement have been reported. The affected segments have been 11q13.3 to 11q14.2, [Legius et al, 1996], 11q13.5 to 11q21 [Yelavarthi and Zunich, 2004], 11q23 to qter [Pfeiffer and Schutz, 1993], 11q22 to 11q24.1 [de Diesmulders and Engelen, 1996], 11q23.3 to 11q24 [Forsythe et al, 1988], 11q23.3 to 11q24? [Delobel et al, 1998] and 11q13 to 11q25 [Zhao et al, 2003].…”

Array‐based genomic delineation of a familial duplication 11q14.1–q22.1 associated with recurrent depression

“…Isolated duplications involving 11q have been described, but the duplications described in only three reports have overlap with the duplication 11q14.1 ! 11q22.1 present in our family [Legius et al, 1996;de Die-Smulders and Engelen, 1996;Yelavarthi and Zunich, 2004]. The patient described in the first report had an overlap duplication of 11q22 !…”

Tetralogía de Fallot asociada a duplicación distal del brazo largo del cromosoma 11

“…El retardo mental presente en estos pacientes varía de leve a severo (3,4,(10)(11)(12)(13)(14)(15)(16)(17). La mayoría de los pacientes con TOF no requiere tratamiento en el periodo neonatal y puede darse de alta al domicilio con revisiones cardiológicas frecuentes, el tratamiento depende del grado de severidad del cuadro, pero en general si existe una cianosis severa o progresiva y la presencia de crisis hipoxémicas se indica un tratamiento quirúrgico (6) En relación a pacientes portadores de la duplicación distal del cromosoma 11, la literatura revisada reporta 6/16 que murieron en el primer año de vida, el de mayor edad murió a los 16 años, con una trisomía para 11q21qter.…”