[Genetic analysis of two fetuses with supernumerary small marker chromosomes derived from complex chromosomal rearrangements].

[Prenatal diagnosis and genetic analysis of a fetus with mosaicism 3q26-qter duplication and 10q26-qter deletion].

The mosaicism unbalanced chromosomal translocation in the fetus is a de novo rearrangement, and its phenotype exhibited heterogeneity.

[Prenatal cyto- and molecular genetic analysis of low-proportion fetal chromosome mosaicisms for pregnant women with abnormal NIPT results].

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

The proband has harbored a complex balanced translocation involving four non-homologous chromosomes in a Chinese pedigree using optical genomic mapping (OGM), which has demonstrated certain advantages in characterization of complex chromosomal structural abnormalities.

A Normal Phenotype Case of a Small Supernumerary Marker Chromosome Chimeric Carrier with 12p11.21p11.21 Duplication.

BACKGROUND sSMC refers to an additional chromosome added to the karyotype of normal human chromosomes, which can be identified by cytogenetic techniques, but its source and structure cannot be determined, and its size is generally ≤ chromosome 20 during metaphase. The clinical phenotype of patients with sSMC can be nor...

Prenatal Diagnosis of a Low-Level Mosaic Small Supernumerary Marker Chromosome (sSMC): Early Postnatal Clinical Follow-Up

Small supernumerary marker chromosomes (sSMCs) are rare chromosomal abnormalities with diverse outcomes and variable effects that can be detected prenatally. The clinical significance of low-level mosaic sSMCs is often uncertain, and postnatal follow-up is essential to assess phenotypic outcomes. A fetus in whom a low-...

[Analysis of the prenatal and postnatal clinical features of six cases of Williams syndrome and a literature review].