## Abstract We detected a unique de novo complex chromosome rearrangement (CCR) in a patient with multiple abnormalities including growth retardation, facial anomalies, exudative vitreoretinopathy (EVR), cleft palate, and minor digital anomalies. Cytogenetic analysis, fluorescent in situ hybridizat
Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review
β Scribed by Laura J.C.M. Van Zutven; Yolande van Bever; Carolien C.M. Van Nieuwland; Gido C.M. Huijbregts; Diane Van Opstal; Anne R.M. von Bergh; Linda J.A. Corel; Dick Tibboel; Cokkie H. Wouters; Pino J. Poddighe
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 328 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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## 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
Thrombocytopenia or pancytopenia is frequently reported in patients with partial l l q deletion but there are no reports on bone marrow morphology of these patients. We report on a patient with partial deletion of the long arm of chromosome 11 Idel(l1) (q24.2qter)l and its classical clinical manifes