Intercellular karyotypic variability has been a focus of genetic research for more than 50
years. It has been repeatedly shown that chromosome heterogeneity manifesting as …

Constitutional chromosomal abnormalities are an important cause of miscarriage, infertility,
congenital anomalies and mental retardation in humans. Most human constitutional …

Among 179 663 prenatal diagnosis cases collected from ten institutions and two
publications, 555 (0· 3 per cent) were diagnosed as having chromosome mosaicism. Of …

We report on 23 years old discordant monozygotic (MZ) twins, one with minor anomalies
and mental delay, the other one being normal. Both had 46, XX, dup (11)(p12p15)/46, XX …

According to the textbook of Gardner and Sutherland [2004], the standard on genetic
counseling for chromosome abnormalities, the recurrence risk of de novo structural or …

Structural copy number variation (CNV) is a frequent cause of human variation and disease.
Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large …

Chromosomal anomalies are well known to be an important cause of infertility, sterility and
pregnancy loss. Balanced Reciprocal Translocation Mosaicism (BRTM) is an extremely rare …

Objective To investigate prenatal manifestations of Emanuel syndrome (ES) by
retrospectively analyzing the results of prenatal diagnosis. Methods Thirteen fetuses were …

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

Objectives Trisomy 21 mosaicism associated with a structural rearrangement of
chromosome 21 is uncommon. We report on two prenatal diagnoses in which karyotypes …