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Article

X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.

American journal of human genetics - 1 Jan 1995

Piussan C, Hanauer A, Dahl N, Mathieu M, Kolski C, Biancalana V, Heyberger S, Strunski V

Abstract excerpt

We report a large two-generation pedigree with seven affected males segregating for an X-linked mixed conductive sensorineural deafness. The patients present with atypical Mondini-like dysplasia, dilated petrous facial canal, dilatation of the internal auditory meatus fully connected with enlarged cochlear canals, and, in one patient, a wide bulbous posterior labyrinth. Obligatory carrier females are mildly...

Topics

Ear, Inner
Female
Hearing Loss, Bilateral
Hearing Loss, Conductive
Hearing Loss, Sensorineural
Heterozygote
Humans
Male
Pedigree
Phenotype
Reflex, Abnormal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Stapes

Subarachnoid Space

Syndrome

X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 7825582
PMCID: PMC1801308

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7825582-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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