De novo direct duplication of chromosome
✍ Fujimoto, Atsuko
📂 Article
📅 1996
🏛 John Wiley and Sons
🌐 English
⚖ 6 KB
✦ LIBER ✦
De novo partial duplication of long arm of chromosome 13: dup(13)(q12?q14)
✍ Scribed by Hermann, Robert; Solt�sz, G.; Morava, E.; Kosztol�nyi, G.; Czak�, M.
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 5 KB
- Volume
- 92
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000605)92:4<296::aid-ajmg16>3.0.co;2-0
No coin nor oath required. For personal study only.
✦ Synopsis
duplication of the 13q14 region.
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✍ Shashi, Vandana; Berry, Margaret N.; Santos, C�sar; Pettenati, Mark J.
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We report on the second case of duplication (4)(q12q13) with microcephaly, mental retardation, and minor facial anomalies. Duplications involving the distal region of chromosome 4q are well described and share common clinical findings. However, phenotypic abnormalities of duplications of the proxima
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We report on a 5-year-old girl with a de novo interstitial duplication of chromosome 6q21-q23 and delayed development and speech with distinctive minor facial anomalies including a ''carp'' mouth. Fluorescence in situ hybridization using a chromosome 6 paint probe confirms that the extra material is
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We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, hi
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D u p l i c a t i o n s o f c h r o m o s o m e r e g i o n 15q11q13 often occur as a supernumerary chromosome 15. Less frequently they occur as interstitial duplications [dup(15)]. We describe the clinical and molecular characteristics of three patients with de novo dup(15). The patients, two males
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Partial trisomy of 19q has been reported in only 13 patients, of which all but one have been due to unbalanced translocations. Only one previous report of a de novo duplication of distal 19q has been described in a fetal chorionic villus sample. There was no description of clinical phenotype in this