Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 14q deletion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 361-364, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-247672
ABSTRACT
<p><b>OBJECTIVE</b>To analyze a child with mental retardation, growth retardation and language development disorders.</p><p><b>METHODS</b>Conventional G-banding analysis was performed on chromosomes cultivated from peripheral blood samples derived from the child and her parents. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities, and the result was confirmed by short tandem repeats (STR) analysis.</p><p><b>RESULTS</b>For the child and her parents, no karyotypic abnormality was detected. However, aCGH analysis has identified a 14q22.1 deletion in the child. The microdeletion, with a size of 2.9 Mb was confirmed by STR analysis.</p><p><b>CONCLUSION</b>The 2.9 Mb chromosomal microdeletion probably underlies the mental retardation, growth retardation and language development disorders in the child.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Abnormalities, Multiple
/
Chromosomes, Human, Pair 14
/
Chromosome Deletion
/
Microsatellite Repeats
/
Comparative Genomic Hybridization
/
Genetics
Type of study:
Prognostic study
Limits:
Child, preschool
/
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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