A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome

Figures & data

Figure 1. Schematic diagram of the X chromosome showing ovarian function as a function of non-mosaic terminal deletions. There are a large number of phenotypic conditions that have been associated with the deleted/duplicated/inactivate or mutated regions on the X chromosome. The terminal X chromosome deletions are often associated with functional ovarian phenotypes and proximal Xq (such as Xq13) deletions often result in absent breast development, primary amenorrhea, and gonadal failure. Therefore, the non-classical form of Turner syndrome, which is called variant Turner syndrome, shows a highly variable phenotype due to the genotypic background of the patients. (a): the region of the marker chromosome [Simpson and Rajkovic 1999]. The schematic demonstration of the marker chromosome gene continent, which contained the Xq11.2q13.2 region with the androgen receptor and the X-inactive specific transcript genes and with a deletion of the region distal to Xq13.2.

Figure 2. G-band chromosomal analysis of peripheral blood lymphocytes revealed 45,X/46,X,+mar and 45,X. (A) G-band chromosomal analysis of peripheral blood lymphocytes revealed 45,X/46,X,+mar. A GTL banded karyotype of the patient showing an 45,X cell line. All autosomes appear normal in their banding patterns. (B) G-band chromosomal analysis of peripheral blood lymphocytes revealed 45,X. A GTL banded karyotype of the patient showing an 46,X,+marker. All autosomes appear normal in their banding patterns.

Figure 3. Multicolor FISH (M-FISH) analysis showing a marker chromosome is derived from the chromosome X. M-FISH preparation of a karyotype showing the normal X-chromosome and the marker chromosome which was derived from the X chromosome.

Figure 4. Fluorescence in situ hybridization (FISH) image of metaphase spread using a short stature homeobox (SHOX), androgen receptor (AR), and X-inactive specific transcript (XIST) probes. (A) FISH image of metaphase spread using a SHOX probe. Dual color FISH with the SHOX gene specific probes showing the normal X chromosome and the marker chromosome. The X chromosome centromere probe (Spectrum Aqua; sp aqua; DXZ1) on an inverted grey scale DAPI-stained metaphase spread shows hybridization to both the X chromosome and the marker chromosome. SHOX region (Spectrum Red; sp red) probe on an inverted grey scale DAPI-stained metaphase spread shows hybridization to the X chromosome and deleted in the marker chromosome. (B) FISH image of metaphase spread using an AR probe. Locus specific FISH with the AR gene specific probes showing the normal X chromosome and the marker chromosome. The AR probe (sp red) on an inverted grey scale DAPI-stained metaphase spread shows hybridization to both the X chromosome and the marker chromosome. (C) FISH image of metaphase spread using an XIST probe. Locus-specific FISH with the XIST gene specific probes showing the normal X chromosome and the marker chromosome. The XIST probe (sp red) on an inverted grey scale DAPI-stained metaphase spread shows hybridization to both the X chromosome and the marker chromosome.

Table 1. Clinical findings for small marker or ring X chromosomes.

Reference	%mosaicism 45,X/46,X or 46,X mar(X) r(X)	Mental Retardation/ Developmental Delay	Unusual Facial Findings	Turner Syndrome Findings	Metabolic and Heart Problems
Bishop et al. 1966	+			+
Cohen et al. 1967					+
Buhler 1980			+
Crolla and Lierena 1988	+			+
Callen et al. 1991	+			+
Lindgren et al. 1992	+	+	+	+
Cole et al. 1994	+	+	+	+
González-del-Angel et al. 1995	+			+
Wolff et al. 1996	+	+	+
Dennis et al. 1993	+	+	+
Collins et al. 1994	+ +			+
Van Dyke et al. 1992	+	+		+	+
Cantu et al. 1995	+	+	+	+
Thong et al. 1996	+		+	+
Schwartz et al. 1997	+			+
Chomczyk et al. 1999	+		+	+
Abdelmoula et al. 2004	+	+	+	+
Liehr et al. 2007	+	+		+
Ye et al. 2009	+			+
This Study	+	+	+	+

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