Results We identified two patients (2.1%) with a mixture of maternal isodisomy and heterodisomy of chromosome 16 in 94 aetiology-unknown patients with SRS phenotype. Both patients exhibited preterm ...

The use of nanopore sequencing for molecular diagnosis of PWS and AS has been explored by Yamada et al; however, to confirm heterodisomy parental data were still required. Here, we investigate ...

The NIPT results suggested an increased number of fetal chromosome 16, and the CMA results indicated that it was the first case of holistic paternal UPD16 with isodisomy combined with heterodisomy, ...

ABSTRACT: Experimental data that prove the existence of the zygotic combinatorial process occurring in an embryogenesis-entering zygote are presented in the paper. The zygotic combinatorial process is ...

Cytogenetic studies of the parents of a girl with the DiGeorge (or velocardiofacial) syndrome, who carried a deletion at 22q11.2, revealed an unexpected rearrangement of both 22q11.2 regions in ...

UPD may involve two copies of the same chromosome (isodisomy) or one copy from the contributing parent's chromosome pair (heterodisomy). Our results suggest mat UPD17 with heterodisomy of 17q and ...

Maternal heterodisomy 15 in our proband with PWS was observed at 15q11.1–12.2 (the most distal informative marker was GABRB3), while analysis of markers mapping to more distal segments of the ...