Detection of large-scale variation in the human genome. Small copy number variations CNVs have typically not been analyzed or reported in clinical settings and hence have remained underrepresented in databases and the literature.
PLoS Genet ; 6 : e Wiley Interdiscip Rev Dev Biol ; 4 : —
A deletion and a duplication in distal 22q Cell ; : — Ford and his team, in the wake of Jost's experiments, discovered  that the Y chromosome was needed for a fetus to develop as male when they examined patients with Turner's syndromewho grew up as phenotypic females, and found them to be X0 hemizygous for X and no Y.
Retaining the testes also appears to reduce the severity of osteoporosis later in life. Many of the non-sex determining X-linked genes are responsible for abnormal conditions. Initially, there were many theories as to how exactly X-inactivation influences sex.
Recombination of chromosomes may lead to heterogamety before the development of sex chromosomes, or recombination may be reduced after sex chromosomes develop.
In an interview for the Rediscovering Biology website,  researcher Eric Vilain described how the paradigm changed since the discovery of the SRY gene:. Integration of these genomic data with DNA methylation, histone modification and predicted RNA expression profiles in normal testes and ovaries suggested spatiotemporal and tissue-specific gene regulation.
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