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Article

A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation.

Minerva pediatrica - 1 Jun 2012

Vecchio D, Salzano E, Vecchio A, Roccella M

Abstract excerpt

A syndrome due to deletion of distal long arm of 1q was delineated by several groups. Up to now different terminal deletions 1q are described often clinically resulting in diagnosed mental retardation syndromes. We report on a 7-year-old male with distal monosomy 1q and additional genetic material on the short arm of chromosome 18. As expected, cytogenetic studies of the infant and his mother showed that the...

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Share to Chromosomes, Human, Pair 1
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 22555332

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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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