Translocation X;13 in a patient with retinoblastoma.

Abstract

We describe a 27 month old female child with partial monosomy for the short arm of chromosome 12: 46,XX,del(12)(p13-1 pl3-3). She differs from the eight cases described by others, in that she is less severely affected. Her main clinical features are developmental delay, protruding tongue, strabismus, slightly unusual facies, slight micrognathia, and speech delay.

Retinoblastoma associated with congenital hypotonia: A case report and review of the literature

“…The patient in this case report had a t(X;13) chromosomal translocation. Seven cases of retinoblastoma in association with t(X;13) chromosomal translocations have been reported previously in the literature [3,5,13,[21][22][23] (Table 1). Balanced translocations involving the X chromosome are associated with an approximately 50% incidence of clinically abnormal phenotypes [24].…”

Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)

“…[10][11][12][13][14][15][16] Mechanisms such as this should be considered when more classical mechanisms of disease have been excluded and where additional clues of accompanying intellectual disability are present.…”

Report of the committee on the genetic constitution of chromosomes 13, 14, 15 and 16

“…This assignment is in conflict with data of Ward et al (1984) who described a patient with an interstitial 13ql3-ql4.ll deletion encompassing the RBI and the ESD loci. Moreover, three retinoblastoma patients with apparently balanced X;13 translocations involving band 13ql2 have been reported (Ejima et al 1982;Mohandas et al 1982 ;Ponzio et al 1987). In these cases, however, clinical symptoms most likely result from spreading of X-inactivation rather than indicating that the RBI locus maps at band 13ql2.…”