• A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)
• A man with isochromosome Xq Klinefelter syndrome with lack of height increase and normal androgenization
• A paracentric inversion of 7q illustrating a possible interchromosomal effect
• Association of Locus Xq26.1-27.3 with Erosive Tooth Wear Phenotypes in a Group of Adolescents
• Clinical and genetic analysis of a case of Turner syndrome with rapidly progressive puberty and a literature review
• Cryptic x; autosome translocation in a boy--delineation of the phenotype
• De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure
• Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review
• Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion
• Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1
• Mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/ 46,XX at amniocentesis in a pregnancy with a favorable outcome
• Oligo-based aCGH analysis reveals cryptic unbalanced der(6)t(X;6) in pediatric t(12;21)-positive acute lymphoblastic leukemia
• Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq
• Prenatal diagnosis of de novo partial trisomy Xq (Xq22.1-->qter) and terminal Xp deletion following sonographic detection of intrauterine growth restriction
• Shox and Awe: A Case of Variant Turner Syndrome with an Unusual Phenotype
• Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation
• The clinical effects of isochromosome Xq in Klinefelter syndrome: report of a case and review of literature
• Tri-allelic pattern at the TPOX locus: a familial study
• Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?
• Trisomy Xq in a male: the isochromosome X Klinefelter syndrome
• Turner syndrome presented with tall stature due to overdosage of the SHOX gene
• Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation
• Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia
• Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle
• Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization