X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies.

Abstract

A 13 year old girl referred for chromosome analysis because of disproportionate short stature (short neck, curved legs, pectus excavatum) with an initial clinical diagnosis of Turner's syndrome was found to have the karyotype 46,X, + der(X) in 100% of her blood lymphocytes. By means of conventional differential staining (QFH/AcD, FPG, and RBA banding) supplemented with distamycin A treatment, the karyotype of the proband was interpreted as 46,X,t(X;Y) (p22.3;ql 1). The rearranged marker X chromosome was found to be active in 91% of lymphocytes studied.

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

“…Males with t(X;Y) may have X-linked disorders, such as contiguous gene syndromes, depending on the extent of the Xp deletion, while most females are phenotypically normal except for short statute (Frints et al 2001;Bukvic et al 2010;Palka-Bayard-de-Volo et al 2012). However, our patient presented a classical TS phenotype, as seen in only a few patients (Kelly et al 1984;Kuznetzova et al 1994). Recently, Portnoï et al (2012) described an unusual case of familial TS with mosaicism for a novel X;Y translocation involving Xp and Yp.…”

Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.

“…The presence of at least one more chromosomally abnormal line was registered in nine cases (cases 3,4,5,6,7,9,10,11,12) and two additional lymphocyte cell lines were identified in cases 6 and 7. The proportions of different cell lines in mosaics scored both in metaphase plates and in interphase nuclei after in situ hybridisation with relevant DNA probes varied from 3% (case 11) to 50% (case 5) (table 2).…”

“…However, the combination of cytogenetic and molecular techniques enables this problem to be solved quite efficiently and the origin of markers in patients with Turner's syndrome to be established. 6 We have used such a complex approach to examine 12 patients with stigmata of Turner's syndrome for precise karyotyping, identification of the origin of marker chromosomes, and determination of the Y material in these subjects.…”

Unique Karyotype: mos 46,X,dic(X;Y)(p22.33;p11.32)/ 45,X/45,dic(X;Y)(p22.33;p11.32) in an Egyptian Patient with Ovotesticular Disorder of Sexual Development

“…The majority of these aberrations were familial and have breakpoints at Xp22 and Yq11 [Pfeiffer, 1980;Yamada et al, 1982;Ross et al, 1985;Speevak et al, 1985;Ballabio et al, 1988;Ohdo et al, 1988;Frints et al, 2001;Kusz et al, 2001]. Most of the females with t(X;Y)(p22;q11) are phenotypically normal except for short stature, or may sometimes manifest some clinical features of Turner syndrome, short limbs or Madelung deformity [Hecht et al, 1980;Kelly et al, 1984;Kuznetzova et al, 1994;Guichet et al, 1997]. On the other hand, the males may have different abnormalities resulting from nullisomy of the deleted region and complete loss of the respective contigu- ous genes.…”