Mitotic disturbance associated with mosaic aneuploidies

Abstract

The association of various unsystematic aneuploidies with premature centromere division (PCD) was observed in a patient with conspicuous clinical features and combined immunodeficiency. Trisomies and monosomies of almost all autosomes and gonosomal aberrations were found separately or in combination in a majority of the proband's lymphocytes and fibroblasts. The chromosome number varied from 44 to 50. A high proportion of the metaphases showed PCD or had the appearance of C-anaphases. These findings probably represent a new mutant affecting mitosis and causing mosaic aneuploidies.

?Premature anaphase? in a couple with recurrent miscarriages

“…A "generalized" PCD affecting all the chromosomes has been found in four healthy individuals of three gener- (Madan et al 1987), in families with a history of spontaneous abortions (Murthy and Prabhakara 1990;Rudd et al 1983), in subfertile families (Gabarron et al 1986;Rudd et al 1983), in a patient with ambiguous genitalia (Miller et al 1990) and in male pseudohermaphroditism (Rangnekar et al 1990). Some of these patients probably had "C-anaphases" as described by Chamla et al (1980) and Chamla (1988a, b).…”

Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature

“…Since the multiple congenital anomalies/mental retardation syndrome associated with this cytogenetic phenomenon was first reported by Scheres et al (1986), to date, only several patients have been reported (Tolmie et al 1988;Papi et al 1989;Miller et al 1990;Warburton et al 1991;Limwongse et al 1997;Nash et al 1997;Flejter et al 1998;Kajii et al 1998). Clinical features in the reported patients were variable, but growth retardation and microcephaly were frequently described.…”

“…In some patients, premature centromere division (PCD) was associated with numerical aneuploidies (Scheres et al 1986;Miller et al 1990;Warburton et al 1991;Limwonge et al 1997;Kajii et al 1998). PCD is a cytogenetic phenomenon characterized by parallel separated rod-like sister chromatids in metaphase.…”

Prenatal diagnosis of premature centromere division–related mosaic variegated aneuploidy

“…PCD-related MVA has been reported in association with cancer and a clinical phenotype of microcephaly, central nervous system (CNS) anomalies, *Correspondence to: Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road Taipei, Taiwan, Republic of China. Email: cpc mmh@yahoo.com mental retardation, pre-and postnatal growth restriction, a flat and broad nasal bridge, low-set ears, eye and skin abnormalities, and ambiguous genitalia in male patients (Scheres et al, 1986;Miller et al, 1990;Warburton et al, 1991;Kajii et al, 1998;Kawame et al, 1999;Limwongse et al, 1999;D'Agostino et al, 2000;Matsuura et al, 2000;Kajii et al, 2001;Jacquemont et al, 2002;Plaja et al, 2001aPlaja et al, ,b, 2003. Parental PCD and recurrence of PCD-related MVA in offspring have been described in several families (Kajii et al, 2001;Plaja et al, 2003).…”