Parental origin and mechanism of formation of a 46,X,der(X)(pter-->q21.1::p11.4-->pter)/45,X karyotype in a woman with mild Turner syndrome.
OBJECTIVE
To describe the parental origin and the mechanism of formation of a 46,X,der(X)(pter-->q21.1::p11.4-->pter)[23]/45,X[8] karyotype in a patient with mild Turner syndrome.


METHODS
Case report.


METHODS
A university hospital.


METHODS
A 23-year-old woman with normal height, gonadal dysgenesis, and mild Turner stigmata.


METHODS
Genotype-phenotype correlation, array-based copy number analysis, fluorescence in situ hybridization with locus-specific probes, and microsatellite marker-mediated haplotype analysis subsequent to whole genome amplification of microdissected chromosomes.


METHODS
Genotype-phenotype correlation, mechanism of formation, and parental origin.


RESULTS
Formation in paternal meiosis by refolding in itself and unequal recombination between Xp and Xq were found as the most likely mechanism of formation.


CONCLUSIONS
Formation of der(X) chromosomes in females can be more complex than previously thought. The nearly normal height of this patient could be explained by a combination of trisomy of the Xp-located SHOX gene and mosaicism with a 45,X cell line.
Binkert
Franz
F
MCL Medical Laboratories, Bern, Switzerland.
Spreiz
Ana
A
Höckner
Martina
M
Miny
Peter
P
von Dach Leu
Brigitte
B
Erdel
Martin
M
Zschocke
Johannes
J
Utermann
Gerd
G
Kotzot
Dieter
D
D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D008297:Male; D010290:Parents; D011247:Pregnancy; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult