47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development.
OBJECTIVE
To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype.


METHODS
Case report.


METHODS
División de Genética, Centro de Investigación Biomédica de Occidente and Hospital de Ginecología y Obstetricia, CMNO, Instituto Mexicano del Seguro Social.


METHODS
The 24-year-old patient presented a phenotypic combination of Turner syndrome and X polysomy. She showed wide and short neck, low posterior hairline, cubitus valgus, bilateral shortening of the fourth and fifth metacarpals, multiple nevi, and müllerian anomalies but had spontaneous pubarche, thelarche, and menarche.


METHODS
Laboratory evaluations, imaging studies, ovarian biopsy, G-banding karyotype, and in situ fluorescence hybridization.


METHODS
Clinical and laboratory findings.


RESULTS
A karyotype: mos 47,XXX/45X/46,XX was found in the cytogenetic studies, a bicornuate uterus in the ultrasonographic scan, and a normal ovarian profile in the laboratory tests.


CONCLUSIONS
The infertility in the present case can be related to either bicornuate uterus or subclinical abortions due to aneuploid ova. Cytogenetic assessment provides important information regarding infertile patients with uterine factors and short stature.
Brambila-Tapia
Aniel Jessica Leticia
AJ
División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, and Doctorado en Genética Humana, Instituto de Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, México.
Rivera
Horacio
H
García-Castillo
Herbert
H
Domínguez-Quezada
Maria Guadalupe
MG
Dávalos-Rodríguez
Ingrid Patricia
IP
D041321:Chromosomes, Human, X; D005260:Female; D023961:Gonadal Dysgenesis, 46,XX / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007247:Infertility, Female / Q000175:diagnosis / Q000235:genetics; D009030:Mosaicism; D010641:Phenotype; D011627:Puberty / Q000235:genetics / Q000502:physiology*; D012729:Sex Chromosome Aberrations; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics; D014424:Turner Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult