Related Experiment Video
Updated: Aug 11, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Recombinant X chromosome in a prenatal diagnosis
C Orellana1, L Badía, F Martínez
1Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain. orellana_car@gva.es
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.
Related Concept Videos
Inheritance of Chromatin Structures
X-Inactivation
X-inactivation
Karyotyping
Pedigree Analysis
X and Y Chromosomes
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...

