[Investigation of a rare supernumerary i(Y)(q10) chromosome in a patient with premature ovarian failure].
OBJECTIVE
To investigate the origin of a rare supernumerary chromosome in a patient with premature ovarian failure (POF), and to explore the relationship between this abnormal karyotype and pathogenesis of POF.


METHODS
GTG banding karyotyping, Q-banding and fluorescence in situ hybridization (FISH) were employed for the investigation.


RESULTS
The extra chromosome was identified as i(Y)(q10) by FISH with a panel of sex chromosome probes. The patient's karyotype was described as: 47,XX,+ ish mar i(Y)(q10) (DXZ1-, SRY-, DYZ3+, DYZ1++, wcpY+).


CONCLUSIONS
Co-occurrence of the supernumerary i(Y)(q10) with a female kryotype is extremely rare. This supernumerary chromosome may cause failure of X chromosomes synapsis during pachytene of meiosis I, which may trigger apoptosis of many oocytes and result in POF of the patient. Q-banding, FISH and multiple probes have been critical for accurate diagnosis of the unknown chromosome.
Cytogenetic Laboratory of Prenatal Diagnosis Center, Maternal and Child Healthcare Hospital of Xiamen, Xiamen, Fujian 361003, P. R. China. zhou_yulin@126.com.
Huan
H
Zeng
Hui
H
Kong
Yunshan
Y
Xiao
Tingting
T
Huang
Huinan
H
Wu
Yanyan
Y
Shen
Yulin
Y
Zhou
D002869:Chromosome Aberrations; D002879:Chromosomes, Human, Pair 10; D041322:Chromosomes, Human, Y; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D016649:Primary Ovarian Insufficiency / Q000235:genetics*