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

• Hlavní autoři: Ros-Pérez Purificación (Autor), Regidor Francisco J (Autor), Colino Esmeralda (Autor), Martínez-Payo Cristina (Autor), Barroso Eva (Autor), Heath Karen E (Autor)
• Médium: Kniha
• Vydáno: BMC, 2012-06-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

<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...