𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A case of de novo interstitial deletion of chromosome 5(q33q34)

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Molecular cytogenetic analysis of a de n
✍ Andreas Tzschach; Ines Krause-Plonka; Corinna Menzel; Andreas Knoblauch; Holger πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 104 KB πŸ‘ 2 views

## 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].

Molecular cytogenetic analysis of a de n
✍ Kramer, Ralph L.; Feldman, Baruch; Ebrahim, Salah A.D.; Kasperski, Stefanie B.; πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 8 KB πŸ‘ 3 views

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

De novo deletion 12q: Report of a patien
✍ Sathya, Pushpa; Tomkins, Darrell J.; Freeman, Viola; Paes, Bosco; Nowaczyk, Ma?g πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 18 KB πŸ‘ 2 views

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