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Article

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods].

Medycyna wieku rozwojowego - 1 Jan 2000

Borg Katarzyna, Bocian Ewa, Bernaciak Joanna, Nowakowska Beata, Derwińska Katarzyna, Obersztyn Ewa, Szczałuba Krzysztof, Smigiel Robert, Kostyk Ewa, Mazurczak Tadeusz

Abstract excerpt

INTRODUCTION: In approximately 6% of balanced chromosomal rearrangements carriers, intellectual disability, dysmorphic features and congenital anomalies can be found. The abnormal phenotype might be the result of genomic imbalance or aberrant expression caused by direct breakage of a dosage sensitive gene. THE AIM OF THIS STUDY: To estimate the frequency and implication of the submicroscopic chromosomal...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

Share to Infant, Newborn

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PMID: 19837989

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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