A case of de novo interstitial deletion of chromosome 5(q33q34)
β Scribed by Jacques C. Giltay; Klasien B. J. Gerssen-Schoorl; Gert H. J. Luitse; Hans G. Dauwerse
- Book ID
- 110887671
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 890 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0009-9163
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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 6/12βyearβold girl with a constitutional interstitial deletion of one homologue of 10q [karyotype: 46,XX,del(10)(q22.2q22.3)de novo].
Interstitial deletions are relatively rare chromosomal anomalies that usually arise de novo. The data describing the phenotype associated with interstitial deletions of 5q are very limited. We describe the first case of multiple fetal anomalies, diagnosed on prenatal sonographic examination, associa
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