Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

BMC Pediatr · 2012 · PMC3514257 · PMID 22747519

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highly significantno p-value reported

It is noteworthy that in our case a recombination event was observed in the PAR1, although a highly significant reduction in recombination has been observed in paternally derived Klinefelter syndrome cases.

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