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

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

<p>Abstract</p> <p>Background</p> <p>The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We descri...

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Bibliographic Details
Main Authors: Ros-Pérez Purificación, Regidor Francisco J, Colino Esmeralda, Martínez-Payo Cristina, Barroso Eva, Heath Karen E
Format: Article
Language:English
Published: BMC 2012-06-01
Series:BMC Pediatrics
Subjects:
Klinefelter syndrome
Achondroplasia
Mutation
Karyotype
Prenatal diagnosis
Online Access:http://www.biomedcentral.com/1471-2431/12/88

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http://www.biomedcentral.com/1471-2431/12/88

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