Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype. Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements. ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1. X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. Langer mesomelic dysplasia in early fetuses: two cases and a literature review. Expression of SHOX in human fetal and childhood growth plate.

The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. In this chapter, we overview our current knowledge about the chromosomal, genomic, and single-gene diseases of the sex chromosomes, and discuss the correlation with fetal morphology.

Understanding the bases of these gender-based differences is also important for the development of new approaches to disease prevention, diagnosis, and treatment. Some studies on the relative roles of the sex chromosome genes are likely to illuminate the reasons for the expression of some diseases within and between the sexes. Therefore, the diseases caused by X- and Y-linked genes are not only similar to those caused by autosomes genes, but also gender specific. It is widely accepted that human X and Y chromosomes are differentiated from a pair of autosomes by means of chromosomal inversions or accumulation of linked sex-determining genes.

What chromosome does scid affect