Investigation of a rare supernumerary i(Y)(q10) chromosome in a patient with premature ovarian failure.
- VernacularTitle:一例卵巢早衰患者罕见的额外Y长臂等臂染色体研究
- Author:
Huan ZENG
1
;
Hui KONG
;
Yunshan XIAO
;
Tingting HUANG
;
Huinan WU
;
Yanyan SHEN
;
Yulin ZHOU
Author Information
- Publication Type:Journal Article
- MeSH: Chromosome Aberrations; Chromosomes, Human, Pair 10; Chromosomes, Human, Y; Female; Humans; In Situ Hybridization, Fluorescence; Karyotype; Primary Ovarian Insufficiency; genetics
- From: Chinese Journal of Medical Genetics 2014;31(2):192-195
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSGTG banding karyotyping, Q-banding and fluorescence in situ hybridization (FISH) were employed for the investigation.
RESULTSThe 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+).
CONCLUSIONCo-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.