Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?

Tolmie, John; Boyd, E.; Batstone, P; Ferguson-Smith, M. E.; Roomi, L al; Connor, J M

doi:10.1007/bf00702872

Cited by 27 publications

(34 citation statements)

References 9 publications

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“…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.…”

Section: Introductionmentioning

confidence: 96%

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

et al. 1999

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We report a male infant with multiple congenital anomalies and mosaic variegated aneuploidy; a rare cytogenetic abnormality characterized by mosaicism for several different aneuploidies involving many different chromosomes. He had prenatal-onset growth retardation, microcephaly, dysmorphic face, seizures, hypotonia, feeding difficulty, and developmental delay. In addition, he developed bilateral Wilms tumors. Neuroradiological examination revealed Dandy-Walker malformation and hypoplasia of the cerebral hemisphere and pons. Cytogenetic analysis revealed various multiple numerical aneuploidies in blood lymphocytes, fibroblasts, and bone marrow cells, together with premature centromere division (PCD). Peripheral blood chromosome analysis from his parents also showed PCD, but no aneuploid cells. The clinical phenotype and multiple aneuploidies of the patient may be a consequence of the homozygous PCD trait inherited from his parents. Comparison with previously reported cases of multiple aneuploidy suggests that mosaic variegated aneuploidy with PCD may be a clinically recognizable syndrome with major phenotypes being mental retardation, microcephaly, structural brain anomalies (including DandyWalker malformation), and possible cancer predisposition.

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Section: Introductionmentioning

confidence: 96%

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

et al. 1999

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“…The term mosaic variegated aneuploidy was first proposed by Vigfusson et al [1986] to describe the cytogenetic finding in macaque monkey. Only 10 human cases have been reported, all ascertained because of phenotypic abnormalities [Bitoun et al, 1994;Issa et al, 1996;Miller et al, 1990;Papi et al, 1989;Scheres et al, 1986;Tolmie et al, 1988;Warburton et al, 1991]. Warburton et al [1991] proposed the use of a term mosaic variegated aneuploidy with microcephaly in these patients, as microcephaly was the most consistent phenotypic abnormality in all cases.…”

Section: Introductionmentioning

confidence: 99%

Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma

et al. 1999

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We report on a 7-year-old boy with mosaic variegated aneuploidy (MVA) who developed embryonal rhabdomyosarcoma of the soft palate. This patient is the 11th case report of MVA and represents further documentation of the true existence of this rare mitotic mutant. Clinical findings share similarities to those previously described patients including microcephaly and growth retardation as the two most common abnormalities. Notably, mental retardation is not universally present. Results of serial cytogenetic analyses performed on somatic and neoplastic tissues are reviewed and compared with those of other previously reported patients. We postulate that mosaic variegated aneuploidy is causally related to the development of rhabdomyosarcoma in our patient. This is the first report of a patient with MVA who developed cancer and suggests that these patients may be at risk for malignancy and require long-term follow-up and cancer surveillance.

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“…However, there are differences: no multibranched configurations were found in our patient, and PCD was not restricted to specific chromosomes; moreover, in the ICF syndrome, no aneuploidies or C-anaphase-like structures have been reported. Tolmie et al (1988) described retarded and microcephalic siblings with chromosome mosaicism mainly concerning trisomy 18; the expression of a mitotic mutant was suspected. A similar observation has been reported by Papi et al (1989).…”

Section: Discussionmentioning

confidence: 99%

Mitotic disturbance associated with mosaic aneuploidies

et al. 1990

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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.

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Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?

Abstract: We report male and female siblings with extreme microcephaly and mental retardation, growth retardation, and multiple chromosome mosaicism. Mental retardation associated with chromosome mosaicism does not always carry a low recurrence risk.

Cited by 27 publications

References 9 publications

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

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

Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma

Mitotic disturbance associated with mosaic aneuploidies

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