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Background Angelman syndrome (AS) is a neurodevelopmental disorder. AS patients concomitant with sSMC are rather rare events. It will provide more useful and proper information for genetic counseling to identify the sSMC origin. Case presentation A 27-year-old woman was referred for genetic counseling and prenatal diagnosis at 26 weeks of gestation due to her elder daughter, diagnosed as Angelman...
Background Ring chromosomes are often associated with spermatogenetic failure. However, the mechanism is poorly understood. We here reported a single man with severe oligospermia and a ring chromosome 4 with a microdeletion at 4p16.3. Results Synapsis (as SCP3), recombination (as MLH1) and transcriptional inactivation (as BRCA1) in a testicular biopsy were examined by fluorescence immunostaining...
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