Analysis of a infertile female with ring 21 chromosome using combined techniques.
- Author:
Hao WANG
1
;
Yan WANG
;
Lingfeng WU
;
Lesi XIE
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 21; genetics; Female; Humans; In Situ Hybridization, Fluorescence; Infertility, Female; diagnosis; genetics; Karyotyping; Ring Chromosomes
- From: Chinese Journal of Medical Genetics 2014;31(6):761-764
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate clinical phenotype and genetic characteristics of a 30-year-old infertile female carrying a mosaic ring 21 chromosome.
METHODSA combination of techniques including G-banding, C-banding, fluorescence in situ hybridization (FISH) and SNP array were performed to investigate the breaking point of the r(21).
RESULTSThe karyotype of the patient was mos 46,XX,r(21)[166]/46, XX,der(21)[60]/45, XX, -21[20]/46, XX,dic r(21)[4].ish del(21)(q22.2?)(21qter-, AML1+, D21S259/D21S341/D21S342+). arr 21q22.3(43 457 934-48 093 361) × 1, 21q22.2q22.3(40 218 429-43 457 934)× 1-2. The karyotypes of her parents were both normal.
CONCLUSIONClinical phenotypes of patients carrying a ring 21 mainly depends on the percentage of abnormal cells and the deleted chromosomal fragment. The small uterus and oligomenorrhea in our patient may be attributed to the mosaic ring 21 chromosome.
