A new case of Y to X translocation in a female

Abstract

An unbalanced Y to X translocation due to a de novo mutation is described in a female with some clinical features of the Turner syndrome. Her karyotype is defined as 46,X,t(X;Y)(Xp11.2;Yq11). Hae III restriction analysis revealed an amount of male-specific DNA sequences in the normal male range. DNA replication analysis showed that in all cells studied the translocation X chromosome was late replicating and that the X segment of the translocation chromosome was later replicating while replication of the Y segment varied. A serologic test indicated a reduced titer of H-Y antigen, and biochemical studies for the enzyme steroid sulfatase revealed activity in the male range.

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

“…This preferential inactivation was also reported by Hecht et al [1980] and Kelly et al [1984], where the translocation chromosome was late replicating in all cells studied, with a variable replication of the Y segment. Nevertheless, in several cases, disruption of gene expression occurred independently of X inactivation, suggesting position effects resulting from chromosomal rearrangement [Sharp et al, 2005].…”

“…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.…”

Familial X;Y translocation in a malformed male infant and his mother

“…The majority of these cases were familial (Wegner et al, 1984;Speevak et al, 1985;Ross et al, 1985;Allderdice et al, 1983;Van den Berghe et al, 1977;Tiepolo et aI., 1977;Pfeiffer, 1980;Akesson et al, 1980;Boyd et al, 1981;Yamada et al, 1982;Metaxotou et al, 1983). The number of sporadic cases was 10 (Johnston et al, 1987;Van den Berghe et al, 1977;Khudr et al, 1973;Borgaonkar et al, 1974;Bernstein et al, 1978;Hecht et al, 1980;Bernstein et al, 1980;Cohen et al, 1981 ;Zuffardi et aI., 1982).…”

“…In many of these women, menarche occurred when they were 12 to 15 years old, menstrual periods were regular, and they were fertile. In exceptional cases, some female patients showed several congenital abnormalities other than short stature (Johnston et al, 1987;Pfeiffer, 1980;Hecht et al, 1980;Khudr et al, 1973).…”

On the Heterogeneity of Heterochromatin

“…HEcHT et al 1980). DAPI ( 4'-6-diamidino-2-phenylindole) is a fluorochrome which also belongs to the group of compounds specific for A-T and not intercalating.…”