We present a 16-month-old boy with developmental delay, minor anomalies, small penis, and lymphedema of the upper limbs. Routine cytogenetic analysis suspected a duplication of 5q. Fluorescent in situ hybridization (FISH) with a cosmid probe (MCC at the 5q22 APC region) showed tandemly duplicated fl
De novo complex chromosome rearrangement detected by fluorescence in situ hybridization on amniotic fluid cells
β Scribed by Calabrese, G.; Morizio, E.; Guanciali Franchi, P.; Stuppia, L.; Palka, G.; Mingarelli, R.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 15 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980203)75:4<414::aid-ajmg12>3.0.co;2-r
No coin nor oath required. For personal study only.
β¦ Synopsis
Only a few cases of de novo complex chromosome rearrangements (CCRs) in amniotic fluid have been reported [
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We present a patient with developmental delay, minor anomalies, and duplication 18p confirmed by fluorescence in situ hybridization with whole chromosome 18 painting probe (Oncor p5218). Our observation confirms the findings of other investigators that duplication 18p is not associated with major ma
Fig. 1. a: Representative GTG-banded chromosome 15s demonstrating lack of a detectable deletion, b: representative cell from FISH analysis demonstrating the normal signal pattern for SNRPN found in 11/39 cells, and c: Representative cell from the same FISH analysis demonstrating a deletion of SNRPN
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