Genetic analysis of a patient featuring developmental delay and mental retardation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 208-211, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-247705
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic cause for a child featuring developmental delay and mental retardation.</p><p><b>METHODS</b>The child was analyzed with G-banded karyotyping and an Illumina Human CytoSNP-12 Beadchip.</p><p><b>RESULTS</b>The father of the patient had a normal karyotype. The mother had a karyotype of 46, XX, t(12;15)(p13.3;q13). The child had a karyotype of 45, XY, der(12)t(12;15)(p13.3;q13)mat, -15. SNP array analysis showed that the child has deletions in 12p13.31-p13.33 and 15q11.2-q13.2. But no deletion or duplication was detected in his mother.</p><p><b>CONCLUSION</b>The unbalanced translocation involving chromosomes 12 and 15 probably accounts for the mental retardation in the child. SNP array is useful for the detection of chromosomal rearrangements and genetic counseling.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Translocation, Genetic
/
Chromosomes, Human, Pair 12
/
Chromosomes, Human, Pair 15
/
Developmental Disabilities
/
Chromosome Aberrations
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Chromosome Banding
/
Genetics
/
Karyotyping
/
Intellectual Disability
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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