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Although many patients with duplication 3q syndrome have been described reports on duplication derivatives from an insertion are rare in the previous literature. Here we describe the genotype and phenotype of a 32-month-old boy with a partial trisomy of 3q24-q28. We carefully mapped the aberration with SNP-array analysis, and found a duplication region of(More)
OBJECTIVE To explore the genetic cause for a fetus with structural anomaly, and to correlate the phenotype with the genotype. METHODS Amniotic fluid was obtained following the revelation of structural anomaly by ultrasonography. Cell culture and direct DNA extraction were performed in parallel. G-banded karyotyping analysis and chromosome microarray(More)
OBJECTIVE To determine the genetic cause of a child with blepharophimosis, ptosis, and epicanthus inverses syndrome and tetralogy of Fallot, and to correlate the phenotype with the genotype. METHODS Routine G-banding has been previously performed on the patient and her parents. Chromosome microarray analysis (CMA) was performed for the three individuals and(More)
OBJECTIVE To report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing. METHODS Detailed sonographic fetal screening was performed by an experienced sonographer at 32 weeks of gestation. Fetal cranial magnetic resonance imaging (MRI) was applied to detect potential brain abnormality. Chromosomal(More)
AIM To describe the case of a 32-year-old infertile male with small supernumerary marker chromosome (sSMCs) in 80% of peripheral lymphocytes. METHODS G-banding, C-banding, STRP analysis, M-FISH and molecule diagnosis of Y-chromosomal microdeletions were performed to determine the origin of sSMCs. RESULTS The karyotype of this patient was established as(More)
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