Parental origin of the X chromosome in a patient with a Robertsonian translocation and Turner's syndrome.

Abstract

We report on a proband with both a Robertsonian translocation and Turner's syndrome. Study of the parental origin of the X chromosome performed by microsatellite analysis indicates paternal origin of the X chromosome (Xpat). The present report deals with a new case of monosomy X combined with t(13;14). As the translocation was paternally inherited, we wanted to evaluate if the second aberration (XO) had the same origin. Simple dinucleotide sequence repeats have been shown to be highly polymorphic and useful in genetic analysis since they are readily assayed by PCR.3 Therefore, we based our analysis on the microsatellite marker located at the extreme terminus of the dystrophin gene.4The proband, a 16 year old girl, was admitted to hospital because of short stature and primary amenorrhoea. Physical examination showed phenotypic characteristics of Turner's syndrome: small mandible, epicanthic folds, hypertelorism, low set ears, short neck with pterigium and low W shaped posterior hair line, shield chest, undeveloped breasts with widely spaced hypoplastic nipples, cubitus valgus, short fourth and fifth metacarpals, short fifth finger with clinodactyly, and gonadal dysgenesis. Her intelligence was normal. At the time of birth her mother was 22 and her father was 23 years old. Her parents had a second daughter, six years younger and phenotypically normal. The mother had no history of spontaneous abortion and the father is a phenotypically normal male.Chromosome analysis was performed on trypsin G banded chromosome preparations from peripheral lymphocyte cultures; 50 metaphases were scored.Polymerase chain reaction was carried out on DNA extracted from blood samples. The oligonucleotides4 allowed the amplification of markers DYS 1 and DYSI 1 1, with a size range of 177 to 185 bp and 219 to 225 bp, respectively. Reactions and conditions of the amplification were as described by Feener et al4 and the PCR products were electrophoresed on a 5% non-denaturing polyacrylamide gel (figure A). The alleles of the marker were separated on a 10% non-denaturing polyacrylamide gel and visualised by ethidium bromide staining (figure B).In the proband's lymphocytes, besides monosomy X, cytogenetic analysis showed the presence of a Robertsonian translocation: 44,X,t(1 3q; 14q) (data not shown). The translocation chromosome was inherited from her father, whose karyotype was 45,XY,t(13q;14q). The karyotypes of her mother and sister were normal.Amplification of the DYS1 marker was not informative in our family (data not shown).

Cytogenetic findings in Serbian patients with Turner’s syndrome stigmata

“…Laszlo et al (1984) reported a patient, her mother and sister, who all had a t(13;14). Krajinovic et al (1994) found that both X-chromosomes and the t(13;14) were paternally inherited in one of their patients. Silva et al (2006) reported a patient who had both translocation and X-chromosome that were demonstrated to be maternally inherited.…”

“…To the best of our knowledge, four cases of monosomy X associated with balanced Robertsonian translocation t(13;14) (Laszlo et al, 1984;Salamanca et al, 1985;Krajinovic et al, 1994;Silva et al, 2006) and one previous case of Turner's syndrome with familial balanced translocation t(1;2) (q32;q21)mat (Kondo et al, 1979) have been reported until now.…”

Effect of chromosome constitution variations on the expression of Turner phenotype

“…Using high resolution banding, Ozkul et al (2002) found a TS infant with the karyotype 45X,t(1;2)(q41;p16), and one case of TS with familial balanced translocation t(1;2)(q32;q21)mat was described by Kondo et al (1979). Four other studies reported an association of X-monosomy with balanced Robertsonian translocation t(13;14) (Laszlo et al, 1984;Salamanca et al, 1985;Krajinovic et al, 1994;Silva et al, 2006). Recently, Djordjević et al (2010) showed a case of 45,X,t(1;9) (cen;cen) in combination with a r(X) mosaic karyotype.…”

X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome

“…Laszlo et al (1984) reported the case of a patient, his mother and sister, who all had a t(13;14), but found no evidence of an interchromosomal effect. Krajinovic et al (1994) found that both the X chromosome and the t(13;14) translocation in one of their patients were paternally inherited and thus demonstrated that the translocation had no effect on X chromosome non-disjunction. Kondo et al (1979) compared the expected and observed frequency of the 45,X karyotype combined with unrelated balanced translocations and concluded that there was no causal relationship between the two chromosomal abnormalities…”