Cytogenetic and molecular characterization of a patient with partial 6q trisomy and 1q monosomy.
- Author:
Fengjin QIN
1
;
Xiaoyan LU
;
Yapei FENG
;
Peihong TANG
;
Gang NIU
;
Fan LI
;
Jianhai ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Child; Chromosome Banding; Chromosome Disorders; genetics; Chromosomes, Human, Pair 1; genetics; Chromosomes, Human, Pair 6; genetics; Female; Humans; In Situ Hybridization, Fluorescence; Intellectual Disability; genetics; Male; Monosomy; genetics; Trisomy; genetics
- From: Chinese Journal of Medical Genetics 2016;33(2):231-234
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze a girl with moderate mental retardation and speech and language disorders with cytogenetics technique and next-generation sequencing (NGS).
METHODSG-banding chromosome analysis was used to ascertain the karyotype of the child and her parents, and NGS was used for determining the size and origin of the abnormal chromosome fragment. Mate-pair and PCR were used to determine its parental origin.
RESULTSThe karyotype of the child was determined to be 46,XX,add(1)(q44)dn, while her parents were both normal. NGS revealed that the child has harbored a partial trisomy of 6q24.3-q27, and the breakpoint was mapped to at 6q24.3q27. In addition, a 2.5 Mb microdeletion at 1q44 was found in the patient.
CONCLUSIONNo recognizable phenotype was associated with 1q44 deletion. The abnormal phenotypes presented by the child may be attributed to the 6q24.3-q27 triplication. Compared with conventional cytogenetic analysis, NGS has a much higher resolution and great accuracy.
