Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion

Abstract

We report on a 13-year-old female with short stature, minimal axillary and pubic hair, no breast development, absence of uterus and ovaries, with the following karyotype on lymphocyte cultures: 46,X,t(Y;4)(q11.2;p16)[40]/45,X,der(4)t(Y;4)(q11.2;p16)[10]. Loss of the small derivative Y chromosome in 20% of the cells was also confirmed in skin fibroblast cultures. FISH analyses using Y centromere, SRY, subtelomere XpYp/XqYq, Y and 4 painting probes, confirmed the cytogenetic findings. High-resolution STS analyses using 40 markers covering the Y chromosome did not identify any deletion on the Y. However, de novo absence of the 4p subtelomeric region was noted by FISH, although this deletion was not revealed by Array-CGH at 1 Mb resolution, the last array clone being 0.35 or 1 Mb distal to the 4p FISH probe. The female phenotype of this patient must be due to the loss of the derivative Y chromosomes in some of her cells, especially the gonads, while the 4p subtelomeric deletion does not seem to contribute to her phenotype.

Comparison of the toughening effects of different elastomers on nylon 1010

“…Subtelomeric deletions of only 100–300 kb from the telomeric end do not result in the WHS phenotype [De Vries et al, 2003]. A girl, showing Turner syndrome and a mosaic karyotype 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) with a deletion of the 4p subtelomeric region, but no manifestation of Wolf–Hirschhorn syndrome, was reported by Zahed et al [2008]. In the family we have presented, no detectable deletion on the short arm of chromosome 4 occurred, the presence of der(4)t(Y;4)(q11.23;p16.3) was not connected with any phenotypic effects or infertility in three adult members of the family and was passed on for at least three generations.…”