We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first patient with this chromosomal abnormality reported. He was born with minor anomalies, ambiguous genitalia, tracheomalacia, and he was developmen
Molecular characterization of two patients with de novo interstitial deletions in 4q22–q24
✍ Scribed by Yvonne Hilhorst-Hofstee; Zeynep Tümer; Peter Born; Jeroen Knijnenburg; Kerstin Hansson; Vindhya Yatawara; Jesper Steensberg; Reinhard Ullmann; Ger Arkesteijn; Niels Tommerup; Lars Allan Larsen
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 191 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract Interstitial deletions of 10q are rare, and only one patient with a deletion confined to chromosome band 10q22 has been reported so far. We report on a 2 6/12‐year‐old girl with a constitutional interstitial deletion of one homologue of 10q [karyotype: 46,XX,del(10)(q22.2q22.3)de novo].
## Abstract Interstitial deletions involving the chromosomal band 15q15 are very rare. A total of five cases were previously reported. Here another case of a 15q15.2‐q22.2 deletion is reported, presenting with severe craniosynostosis of coronary, metopic, and sagittal sutures. The chromosome 15 wit