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Chromosome anomalies/rearrangements of the Y chromosome seldom threaten life and are quite common. The 4.5Mb AZFc region on Yq11.2 is one of the most polymorphic regions in the human genome. AZFc partial deletion is almost inevitably associated with impaired fertility while the functional significance of AZFc partial duplications remains controversial. In this report, a large Y chromosome with one...
Cleidocranial dysplasia (CCD; MIM 119600) is a rare autosomal dominant disorder characterized by facial, dental, and skeletal malformations. To date, rearrangement and mutations involving RUNX2, which encodes a transcription factor required for osteoblast differentiation on 6p21, has been the only known molecular etiology for CCD. However, only 70% patients were found to have point mutations, 13%...
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