Phenotypic and genetic analysis of four patients with 13q33-q34 microdeletion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 509-513, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-335094
ABSTRACT
<p><b>OBJECTIVE</b>To explore the correlation between 13q33-q34 microdeletion and clinical phenotype.</p><p><b>METHODS</b>Routine chromosomal banding was performed to analyze the karyotype, while array-based comparative genomic hybridization (aCGH array) and single nucleotide polymorphism array(SNP array) were employed to investigate the genome copy number variations.</p><p><b>RESULTS</b>The karyotype of patient 1 was 46, XY, 9qh+,13qs. Patient 2 showed 46, XX, der (13). Patient 3 showed 46, XX, r(13) (p11.2q32) [43]/45, XX, 13[4]/46, XX, r(13;13) [2]/47, XX, 2r(13;13) [1]. Patient 4 did not undergo chromosome karyotyping analysis. Array analysis showed that four patients have different microdeletions in 13q33-34 region and had common features of 13q33-q34deletion including intellectual disability, facial dysmorphism, microcephaly, hypotonia, low birth weight and genital abnormality.</p><p><b>CONCLUSION</b>The severity of phenotypes showed no correlation with the size of deletion in 13q33-q34. The lower percentage of patients with congenital heart disease suggested a complex pathogenesis of such disease. EFNB2, LIG4 and SOX1 in 13q33-34 region are promising candidates for mental retardation. LIG4 was also a likely candidate for microcephaly.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Chromosomes, Human, Pair 13
/
Genetic Testing
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Chromosome Banding
/
Chromosome Deletion
/
Genetics
/
Intellectual Disability
/
Methods
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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