A Case of 46,X,der(X)t(X;X)(q22.1;p11) Xq22.1→Xqter in a 12-Year-Old Girl with Premature Ovarian Failure

Abstract

Premature ovarian failure due to Xp duplication and Xq deletion has been reported in four patients, the youngest of whom was 18 years old. The diagnosis has been made with new techniques for genetic analysis, such as comparative genomic hybridization and fluorescence in situ hybridization. We report the youngest case (a 12-year-old who presented with irregular menses), of premature ovarian failure due to Xp duplication and Xq deletion and the first with 46,X,der(X)t(X;X)(q22.1;p11). The diagnosis was made using C-banding and fluorescent in situ hybridization with locus-specific probes. This case highlights the need to use advanced genetic strategies to determine karyotypic and phenotypic abnormalities.

Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome

“…4). We observed two cases reported in [23] [24] having short stature and secondary amenorrhoea with almost similar chromosomal anomalies (mosaicism and Xq deletion) as in our cases 1 and 2 ( Fig. 4) with difference in severity (primary amenorrhoea in case 1 and oligoamenorrhoea amenorrhoea in case 2).…”

“…4) with difference in severity (primary amenorrhoea in case 1 and oligoamenorrhoea amenorrhoea in case 2). Similar to case 2, Xq22.1 -Xter deletion has been reported in a 12-year-old girl with irregular menses [24] (Fig. 4).…”

Genomic Markers of Ovarian Reserve

“…123–129 Evaluation of chromosomal abnormalities by karyotype (recently reviewed 12,130 ) has linked large regions of the X chromosome to the presence of POI, including monosomy X (Turner syndrome), trisomy X, and mosaicism. 125,131 Several key regions on the X chromosome have been identified as essential for ovarian function by karyotype analysis: Xq27–28, 126,132–135 Xq13.3– 22, 123,124,126,136–139 Xp13.1-p11, 137,140 and Xq22–25. 135,141 Within these regions, genes are present that are known to contribute to ovarian function including FMR1 (q27.3), inactive X-specific transcripts ( XIST ; q13.2), diaphanous homolog 2 ( DIAPH2 ; q21.33), BMP15 (p11.2), and X-linked inhibitor of apoptosis ( XIAP ; q25).…”

Copy number variants on the X chromosome in women with primary ovarian insufficiency

“…The majority of these translocation breakpoints and deletions on the X chromosome cluster within two POI critical regions on the long arm: loci Xq13.3-Xq21 and Xq23-Xq27 (11)(12)(13). Also, X chromosomal interstitial deletions (13)(14)(15)(16), inversions (17), Robertsonian translocations (15,18), and short arm deletions (19) have been described in relation to the POI phenotype. Recently, a study that analyzed karyotypes and X-specific fluorescent in situ hybridization (FISH) probes in POI patients identified X chromosome abnormalities in 8.3% of 568 patients (20).…”