A Turner syndrome woman with a ring X chromosome [45,X/46,X,r(X)(p22.3q27)] whose child also had a ring X chromosome.
OBJECTIVE
To describe a woman with Turner syndrome with ring X chromosome mosaicism who had a child who possessed the same ring X chromosome.


METHODS
Polymorphisms of genes located on the X chromosome from genomic DNA of the mother, father, and the child were evaluated.


METHODS
The mother's karyotype was 45,X [48]/46,X,r(X)(p22.3q27) [2], and the child's karyotype was 45,X[33]/46,X,r(X)(p22.3q27) [17].


METHODS
Polymerase chain reaction was used to amplify short tandem repeats from the loci of the hypoxanthine phosphoribosyltransferase gene and the androgen receptor gene.


RESULTS
Alleles for both genes in the child originated from both parents in a heterozygous fashion. The alleles originating from the mother originated from the ring X chromosome. However, the amount of amplified DNA was less than that of a normal X chromosome.


CONCLUSIONS
The ring X chromosome of the mother was most likely transmitted to the newborn. Thus, an ovum with the ring X chromosome can be fertile and can produce a viable zygote.
Uehara
S
S
Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan.
Nata
M
M
Obara
Y
Y
Niinuma
T
T
Funato
T
T
Yajima
A
A
D000328:Adult; D002585:Cesarean Section; D005260:Female; D005298:Fertility; D005317:Fetal Growth Retardation; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011944:Receptors, Androgen / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid; D012303:Ring Chromosomes; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome
D011944:Receptors, Androgen; D007041:Hypoxanthine Phosphoribosyltransferase