A child with deletion (14)(q24.3q32.13) and auditory neuropathy
β Scribed by Kamilla Schlade-Bartusiak; Georgina Macintyre; Janice Zunich; Diane W. Cox
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 164 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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We describe a male child with craniofacial anomalies, postnatal onset growth retardation, microcephaly, multiple minor anomalies, hearing loss, and moderate delay of mental and statomotor development. He carries a previously undescribed tandem translocation between the long arm of chromosome 14 and
## Abstract Distal interstitial deletions of chromosome 14 involving the 14q24βq23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3βq32.2 in a m