Phenotypic and genetic analysis of a boy with partial trisomy of 1q / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 398-401, 2017.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-335117
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities.</p><p><b>METHODS</b>The karotypes of the proband and his parents were analyzed with routine G-banded chromosomal analysis. Genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) assay.</p><p><b>RESULTS</b>The karyotype of the proband was 46,XY,add(1)(p36.3). No karyotypic abnormality was detected in either parent. aCGH has identified a de novo 25.1 Mb duplication at 1q42q44 in the proband.</p><p><b>CONCLUSION</b>The de novo 1q42q44 duplication, which may be due to non-allelic homologous recombination mediated by low copy repeats, probably underlies the abnormalities in the proband.</p>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Trisomy
/
Chromosomes, Human, Pair 1
/
Genetic Testing
/
Chromosome Banding
/
Genetics
/
Karyotyping
Type of study:
Prognostic study
Limits:
Child, preschool
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Document type:
Article