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Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q
This case represents the smallest distal duplication of chromosome 5q that is not associated with congenital heart defects, and provides evidence that the gene dosage effect of the NSD1 gene causes a reversed phenotype of microcephaly and short stature. Expand
Prenatal diagnosis of the distal 11q deletion and review of the literature
The prenatal diagnosis of de novo distal 11q deletions and a review of the literature are presented. Expand
Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus
Fetuses with chromosome 1p32-p31 deletion syndrome and haploinsufficiency of the NFIA gene may present ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction in the third trimester. Expand
Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.
We report a 3 years and 4 months old girl with autistic features, developmental delay, mental retardation, language impairment and dysmorphic features, carrying a 2.8 Mb de novo deletion ofExpand
Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3→q31.3) associated with Gorlin syndrome
To present the perinatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 9q (9q22.3→q31.3) associated with Gorlin syndrome.
Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review.
It is suggested that in instances of repeated amniocentesis for confirmation of mosaic trisomy 8, follow-up investigations should include interphase fluorescence in situ hybridization studies on uncultured amniocytes, uniparental disomy tests, and detailed ultrasound examinations. Expand
Prenatal diagnosis of the Dandy‐Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion
The prenatal diagnosis and perinatal findings of partial trisomy 9p and distal 12p deletion are presented. Expand
A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay.
The present case provides the evidence that 15Q14 deletion outside the region encompassing the CHRNA7 gene can cause generalized epilepsy, and a locus in 15q14 is associated with speech and language disorder. Expand
Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic analysis.
Prenatal diagnosis of a single colony with two or more cells with trisomy 2 at amniocentesis should alert a clinically significant aneuploidy, and interphase FISH on uncultured amniocytes is useful for rapid confirmation of low-level trisome 2 mosaicism at amNIocentesis. Expand