Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf–Hirschhorn critical region in a fetus with split hand malformation
✍ Scribed by Erwin Petek; Klaus Wagner; Horst Steiner; Heinz Schaffer; Peter M. Kroisel
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 118 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0197-3851
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✦ Synopsis
We describe the results of prenatal analyses and postnatal ®ndings in a male fetus with a partial trisomy for the long arm and a small terminal monosomy for the short arm of chromosome 4 with the following karyotype: 46,XY,add(4)(p16.3).ish dup(4)(q26qter)(wcp4+,D4S2336x3,AFMb280xa5x2,4ptel-,WHCR-). G-banding did not identify the origin of the additional chromosomal segment, but this was achieved prenatally by application of RxFISH and whole chromosome painting probes. Subsequent FISH analysis with region-speci®c YAC clones was used to relate the phenotypic ®ndings such as bilateral split hand formation, speci®c cardiac and kidney anomalies, microtia, and hypoplastic thorax more exactly to the partial trisomy of the segment 4q26-qter.