在此报道了1例13个月大的男性婴儿,其有明显正常核型、生长和发育严重迟滞、鱼鳞病、性腺机能减退、肢体短小、脑胼胝体发育不全、脸圆扁平和上唇浅薄,此因其X染色体亚端着丝粒的缺失或重复而引起。这-X染色体重组[rec(X)]源于倒位中的染色体互换,在一个家族中得到确认,其母亲为一个着丝粒周倒位X染色体和异染色质区着丝粒周倒位9号染色体携 Here, a 13-month-old male infant with significant normal karyotype, severe retardation of growth and development, ichthyosis, hypogonadism, short limbs, hypoplasia of the corpus callosum, flattened face and shallow upper lip was reported Caused by deletion or duplication of centromere of the X chromosome. This X-chromosome recombination [rec (X)] was derived from the chromosomal interchanging in inversion and was confirmed in a family whose mothers were a centromereoid inverted X chromosome and a heterochromatic region centromere Chromosome 9 carries