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Article

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.

American journal of medical genetics. Part A - 15 Aug 2008

Martinet Danielle, Filges Isabel, Besuchet Schmutz Nathalie, Morris Michael A, Gaide Anne-Claude, Dahoun Sophie, Bottani Armand, Addor Marie-Claude, Antonarakis Stylianos E, Beckmann Jacques S, Béna Frédérique

Abstract excerpt

We report on two patients with de novo subtelomeric terminal deletion of chromosome 6p. Patient 1 is an 8-month-old female born with normal growth parameters, typical facial features of 6pter deletion, bilateral corectopia, and protruding tongue. She has severe developmental delay, profound bilateral neurosensory deafness, poor visual contact, and hypsarrhythmia since the age of 6 months. Patient 2 is a...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 18629875
DOI: 10.1002/ajmg.a.32414

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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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