Tandem duplication of chromosome 14 (q24+q32) in male newborn with congenital malformations
✍ Scribed by Jovanka Nikoli š; Ksenija Ivanović; Marija Kosanović
- Book ID
- 119839484
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 382 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0009-9163
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## Abstract Distal interstitial deletions of chromosome 14 involving the 14q24‐q23.2 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 14q24.3‐q32.2 in a m
W e describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del (17) (q23.2q24.3)I who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and di