Recombinant X chromosome in a prenatal diagnosis.

Autores de IIS La Fe

• Carmen Orellana Alonso

  Autor

• Lourdes Badia Garrabou

  Autor

• 

  Francisco Martínez Castellano

  Autor

• Juan Silvestre Oltra Soler

  Autor

• Sandra Monfort Membrado

  Autor

• José Vicente Cervera Zamora

  Autor

Participantes ajenos a IIS La Fe

• Roselló M
• García Z
• Prieto F

Abstract

The prenatal cytogenetic study of an amniotic fluid sample of a 39-year-old female showed one X chromosome with a fragment of extra material in the short arm. The G-band pattern suggested that the extra material could be the long arm of an X chromosome. Several complementary studies were performed in order to better clarify the origin of the material. These studies included parental karyotypes, microsatellite typing and comparative genomic hybridization (CGH). The results obtained allowed us to conclude that the derivative chromosome arose de novo as a recombinant X chromosome with duplication of Xq and partial deletion of Xp. Once informed, the parents decided to continue with the pregnancy, after which a healthy girl was born with no apparent disorders.