Fig. 2

Unbalanced X-autosome translocation causes with intellectual disability, short stature, primary amenorrhea, horseshoe kidney, cleft palate, and dysmorphic features in the proband. a Chromosome G-banding analysis identified an unbalanced X-autosome translocation involving chromosome X and chromosome 19 in the proband (III-1). b and c Chromosome Microarray (CMA) analysis revealed an approximately 17.3 Mb terminal deletion of the short arm of chromosome X (b) and an approximately 22.4 Mb terminal gain of the long arm of chromosome 19 (c) in the proband. y-axis: Log2 ratio (the log2 ratio of mean fluorescent intensity of proband versus normal control subjects: 0 indicates copy number neutral, − 1 indicates one copy loss, 0.58 indicates one copy gain). x-axis: The band positions of chromosome X and chromosome 19