Molecular Cytogenetic Characteristics of Down Syndrome Newborns

Overview

Journal J Hum Genet

Specialty Genetics

Date 2006 May 10

PMID 16683054

Citations 4

Authors

Aliza Amiel

Galit Goldzak

Elena Gaber

Moshe D Fejgin

Affiliations

Soon will be listed here.

Abstract

Down syndrome (DS) is a multifactorial disorder with a high predisposition to leukemia and other malignancies. A change in the replication pattern from synchronous in normal genes to asynchronous in DS amniocytes has previously been reported. The objective of this study was to evaluate additional molecular cytogenetic factors which could re-emphasize the high correlation between DS cells and genetic instability. We found a higher rate of random aneuploidy in chromosomes 9 and 18 and a higher rate of asynchronous replication in the subtelomeric region or DS leukocytes than in cells from normal newborns. In addition, the telomere capture phenomenon was observed in the DS leukocytes but not in normal controls. The molecular cytogenetic factors observed in the DS individuals are known to correlate with genomic instability and with predisposition to cancer.

Citing Articles

Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels.

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GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia.

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Aneuploidy in health, disease, and aging.

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