Medizinische Universität Graz - Research portal
Selected Publication:
Petek, E; Wagner, K; Steiner, H; Schaffer, H; Kroisel, PM.
Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation.
Prenat Diagn. 2000; 20(4):349-352
Doi: 10.1002/(SICI)1097-0223(200004)20:4<349::AID-PD808>3.0.CO;2-B
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
- Leading authors Med Uni Graz
- Kroisel Peter
- Petek Erwin
- Co-authors Med Uni Graz
- Wagner Klaus
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- Abstract:
- We describe the results of prenatal analyses and postnatal findings 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-specific YAC clones was used to relate the phenotypic findings such as bilateral split hand formation, specific cardiac and kidney anomalies, microtia, and hypoplastic thorax more exactly to the partial trisomy of the segment 4q26-qter.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics
- Adult - genetics
- Chromosomes, Human, Pair 4 - genetics
- Cytogenetic Analysis - genetics
- Fatal Outcome - genetics
- Female - genetics
- Fetal Growth Retardation - ultrasonography
- Hand Deformities, Congenital - genetics
- Humans - genetics
- In Situ Hybridization, Fluorescence - genetics
- Male - genetics
- Middle Aged - genetics
- Monosomy - genetics
- Pregnancy - genetics
- Syndrome - genetics
- Trisomy - genetics
- Ultrasonography, Prenatal - genetics
- Find related publications in this database (Keywords)
- 4q26-qter
- FISH-analysis
- microtia
- partial trisomy
- split hands
- Wolf-Hirschhorn syndrome