An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

Interstitial duplications of 11q are very rare and seldom reported. In this paper we describe the first case of a duplication involving bands 11q11 and 11q12. This newly described patient has multiple craniosynostoses, congenital heart defect and developmental delay, and is a carrier of a mosaic duplication: 46,XY,dup(11)(q11-->q13.3)(29)/46,XY(6). The breakpoints were further delimited by comparative genomic hybridization microarray. We also performed fluorescent in situ hybridization analysis to determine the extension of the duplication in a patient described earlier with a duplication 11q13.5-q21. An overlapping region of less than 1.2 Mb was identified and included the duplication of genes FGF3 and FGF4 in both individuals. We discuss the possible implications of dosage effects of these genes in the onset of craniosynostosis.

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

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.