Medizinische Universität Graz - Research portal
Selected Publication:
Emberger, W; Petek, E; Kroisel, PM; Zierler, H; Wagner, K.
Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome.
Am J Med Genet. 2001; 104(4):312-318
Doi: 10.1002/ajmg.10096
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
- Leading authors Med Uni Graz
- Emberger Werner
- Co-authors Med Uni Graz
- Kroisel Peter
- Petek Erwin
- Wagner Klaus
- Zierler Hannelore
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- Abstract:
- We report the clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q. The first patient is a currently 11-year-old female proposita with a de novo unbalanced translocation 46,XX,der(8)(8qter-8p23.3::1q41-1qter), leading to a partial trisomy 1q41-qter and a partial monosomy for 8p23.3-pter. The most prominent clinical features of the girl are a triangular face, almond-shaped eyes, low-set ears, short stature with relatively long legs, and mild psychomotor retardation. To our knowledge, the cytogenetic aberration in this girl is the most proximal partial trisomy 1q leading to a mild phenotype. Recently, we identified a second patient with a similar partial trisomy 1q combined with a cri du chat syndrome caused by a de novo unbalanced translocation 46,XX,der(5)(5qter-5p13.1::1q41-1qter). Comparison of the phenotype of the two girls as well as with already published trisomy 1q cases was performed, and fluorescence in situ hybridization probes from selected YACs were used to delineate the extent of the partial trisomy in more detail.
- Find related publications in this database (using NLM MeSH Indexing)
- Child -
- Child, Preschool -
- Chromosome Banding -
- Chromosomes, Human, Pair 1 - genetics
- Chromosomes, Human, Pair 8 - genetics
- Cytogenetic Analysis - genetics
- Fatal Outcome - genetics
- Female - genetics
- Humans - genetics
- In Situ Hybridization, Fluorescence - genetics
- Infant - genetics
- Karyotyping - genetics
- Phenotype - genetics
- Syndrome - genetics
- Translocation, Genetic - genetics
- Trisomy - genetics
- Find related publications in this database (Keywords)
- partial trisomy 1q
- chromosome 1
- unbalanced translocation
- phenotype genotype correlation
- trisomy 1q
- cri du chat overlap