Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 849-852, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-344162
ABSTRACT
<p><b>OBJECTIVE</b>To determine the origin of chromosomal aberration in a boy with mental retardation and multiple congenital malformations.</p><p><b>METHODS</b>The karotypes of the proband and his parents were analyzed with conventional G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH).</p><p><b>RESULTS</b>No karyotypic abnormality was detected in the proband and his parents. aCGH has identified a de novo 405 kb deletion at 9q34.3 in the proband, which encompassed the EHMT1 gene and part of CACNA1B gene.</p><p><b>CONCLUSION</b>The de novo 9q34.3 deletion probably underlies the mental retardation and development delay in the boy. EHMT1 may be one of the key genes responsible for 9q34.3 microdeletion syndrome.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Chromosomes, Human, Pair 9
/
Chromosome Banding
/
Chromosome Deletion
/
Histone-Lysine N-Methyltransferase
/
Craniofacial Abnormalities
/
Comparative Genomic Hybridization
/
Genetics
/
Heart Defects, Congenital
/
Karyotyping
/
Intellectual Disability
Type of study:
Prognostic study
Limits:
Child
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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