OBJECTIVE: To present prenatal diagnosis of chromosome 1p32-p31 deletion syndrome
with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal …

We report a molecular cytogenetic characterization of 17p13. 3 deletion syndrome by array
comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH) and …

Objective The aim of this report is to describe the phenotype-genotype correlation of
chromosome 9p deletion syndrome cases, particularly the prenatal cases. Case report We …

Interventions: Karyotype analysis and CMA were used to analyze the abnormal
chromosome. Outcomes: Case 1 and case 2 revealed 13.87 and 12.68 Mb deletions by …

OBJECTIVE: To present prenatal molecular cytogenetic diagnosis of mosaicism for terminal
3p deletion and distal 3q duplication using cultured and uncultured amniocytes, and the …

We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06 Mb at 18p11.
32–p11. 21 by aCGH using uncultured amniocytes in a pregnancy with fetal …

The association between 1p32‐p31 contiguous gene deletions and a distinct phenotype that
includes anomalies of the corpus callosum, ventriculomegaly, developmental delay …

Objective We present prenatal diagnosis of a 2p16. 1-p15 duplication associated with
familial intellectual disability, and we discuss the genotype–phenotype correlation. Case …

Interventions: Karyotype analysis and array-based comparative genomic hybridization were
used to analyze the abnormal chromosome. Outcomes: Case 1 and case 2 revealed 11.51 …

Background Chromosome 18p deletion syndrome is a disease caused by the complete or
partial deletion of the short arm of chromosome 18, there were few cases reported about the …