Prenatal diagnosis of mosaicism for double aneuploidy of 47,XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome

Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality

Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo interstitial deletion of chromosome 20p

Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review

Disappearance of the trisomy 8 cell line at long-term follow-up in mosaic trisomy 8 at amniocentesis in a pregnancy with a favorable outcome

Prenatal Visualization of Cebocephaly with a Prominent Nose in a Second-trimester Fetus with Alobar Holoprosencephaly and Trisomy 13

Prenatal diagnosis and molecular cytogenetic characterization of de novo distal 5p deletion and distal 22q duplication

Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum

Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 16

Detection of mosaic balanced homologous acrocentric rearrangement rea(21q21q) in a woman with repeated pregnancy losses

Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome

Placental Abnormalities and Preeclampsia in Trisomy 13 Pregnancies

Prenatal diagnosis of maternal uniparental disomy 21 in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome

Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 8

Mosaicism for a 15q11.2 microduplication with a normal euploid cell line at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the microduplication

Recurrent neural tube defect and craniorachischisis detected in the first trimester and associated with maternal smoking

First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis in a pregnancy with a favorable outcome

Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome