Analysis of genetics mechanism for the phenotypic diversity in a patient carrying a rare ring chromosome 9.
- Author:
Shengfang QIN
1
;
Xueyan WANG
;
Yunxing LI
;
Ping WEI
;
Chun CHEN
;
Lan ZENG
Author Information
- Publication Type:Case Reports
- MeSH: Chromosomes, Human, Pair 9; genetics; Female; Humans; Infant; Karyotype; Male; Ring Chromosomes; Sex Chromosome Disorders; genetics
- From: Chinese Journal of Medical Genetics 2016;33(1):71-75
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetics mechanism for the phenotypic variability in a patient carrying a rare ring chromosome 9.
METHODSThe karyotype of the patient was analyzed with cytogenetics method. Presence of sex chromosome was confirmed with fluorescence in situ hybridization. The SRY gene was subjected to PCR amplification and direct sequencing. Potential deletion and duplication were detected with array-based comparative genomic hybridization (array-CGH).
RESULTSThe karyotype of the patient has comprised 6 types of cell lines containing a ring chromosome 9. The SRY gene sequence was normal. By array-CGH, the patient has carried a hemizygous deletion at 9p24.3-p23 (174 201-9 721 761) encompassing 30 genes from Online Mendelian Inheritance in Man.
CONCLUSIONThe phenotypic variability of the 9p deletion syndrome in conjunct with ring chromosome 9 may be attributable to multiple factors including loss of chromosomal material, insufficient dosage of genes, instability of ring chromosome, and pattern of inheritance.
