11q Aneuploidy: Partial monosomy and trisomy in the children of a mother with a t(3;11)(p27;q23) translocation

Abstract

A woman with a balanced translocation t(3;11)(p27;q23) has had three abnormal children. The first child died in infancy, and of the two survivors who show segregation of the derivative maternal translocated chromosomes, one exhibits partial trisomy 11q and the other partial monosomy 11q. The two cases are compared with each other and with reported examples. Moreover, 11q break points are discussed.

A Case of 11 q– Syndrome Associated with Abnormalities of the Retinal Vessels

“…translocation between 1 lq and another part o f the autosome in a few cases [10]. The breakpoint o f the chromosome is considered to be q23 in most cases with 11 q -syndrome [11], In addition, no relations between the volume o f the deletion o f the chromosome and clinical manifestations have yet 234 Uto/Shigeto/Tanaka/Uchida/Ohnishi/ Nishimura I lq -Syndrome Associated with Ocular Abnormality been found.…”

Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: Report of two cases

“…Physically, both cases showed some clinical manifestations common to one of the associated cytogenetic abnormalities. The fetus in the first case had a number of physical characteristics including cardiac anomalies, abnormal kidneys, and apparently low-set ears seen with del(llI(q23) syndrome [Kaffe et al, 1977;Ridler and McKeown, 1979;Gross et al, 1981;Kuster et al, 1985;Helmuth et al, 1989;Wardinsky et al, 19901. In the second case, mild manifestations of Turner syndrome were present, although none striking. The child shared in common some features associated with partial monosomy of the terminal region of 12p: growth retardation, psychomotor and mental retardation, microcephaly, and tongue protrusion [Romain et al, 1987;Baroncini et al, 1990;F'ryns et al, 19901. The presence of 2 abnormal mosaic autosomal cell lines within an individual in whom the cell lines share in common a chromosome breakpoint is a rare event.…”

Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1

“…The most frequent breakpoint observed in 1 Iq deletion syndrome is located at band llq23 (Engel et al 1976, Larson et al 1976, Bresson & Noir 1977, Cassidy et al 1977, Frank & Riccardi 1977, Kaffe et al 1977, Mulcahy & Jenkyn 1977, Schinzel et al 1977, Zabel et al 1977, Lkonard et al 1979, Lippe et al 1980, Ferry et al 1981, Lee & Sciorra 1981, McPherson & Meissner 1982, Monteleone et al 1982, Cousineau et al 1983, Sirota et al 1984. A breakpoint at llq23 was also found in partial distal l l q monosomies being the unbalanced product of familial translocations involving the long arm of chromosome 11 and another chromosome (Jacobsen et al 1973, Ridler & McKeown 1979, and also the same breakpoint is found in the classical 1 lq/22q translocation (Iselius et al 1983). More proximal breakpoints at 1 lq22 were sporadically found in patients with a similar clinical picture (Linarelli et al 1975, Felding & Mitelman 1979.…”