Background Mosaicism for chromosomal structural rearrangements (Rea) is rare and the
timing and mechanisms of mosaic Rea formation, maintenance, and clinical manifestation …

Background Mosaicism for chromosome rearrangements is common in preimplantation
diagnoses, yet is rare in prenatal diagnoses as well as in other groups of patients referred to …

Robertsonian translocations/isochromosomes formed by homologous acrocentric
chromosomes are rare, and consequently their epidemiology has not been well …

Background Mosaicism for an autosomal structural rearrangement (Rea) associated with
clinical manifestation of chromosomal imbalance is rare. Consequently, there is a lack of …

Purpose Carriers of balanced structural chromosomal abnormalities are phenotypically
normal but are at high risk of infertility. Translocations usually occur between two non …

Since the first numerical abnormalities were discovered in 1959, aneuploidies involving
each of the 24 unique human chromosomes (22 autosomes, X and Y) have been observed …

A 37-year-old, gravida 3, para 1, woman underwent chorionic villus sampling (CVS) at 11
weeks of gestation because of fetal nuchal cystic hygroma. Her husband was 38 years old …

Mosaicism for unbalanced chromosomal rearrangements segmental mosaicism (SM) is rare,
both in patients referred for cytogenetic testing and in prenatal diagnoses. In contrast, in …

Большинство трисомий, затрагивающих одну из 24 хромосом, выявляются у
мертворожденных, недоношенных и редко–у новорожденных. У живых младенцев …

Робертсоновские транслокации/изохромосомы, образованные гомологичными
акроцентрическими хромосомами, являются очень редкими перестройками, поэтому их …