Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay
| Autor: | Katrin Õunap, Simone Metzke-Heidemann, Pille Tammur, Oliver Bartsch, Hansjörg Plendl, Walter Jonat, Regina Grunewald, Almuth Caliebe, Reiner Siebert, Jörg Weimer, Norbert Arnold |
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| Rok vydání: | 2006 |
| Předmět: |
Male
Pathology medicine.medical_specialty Adolescent Marker chromosome Ring chromosome Aneuploidy Biology Y chromosome Speech Disorders Klinefelter Syndrome Genetics medicine Humans Abnormalities Multiple Ring Chromosomes Supernumerary Child In Situ Hybridization Fluorescence Genetics (clinical) Chromosomes Human Y medicine.diagnostic_test Karyotype medicine.disease Face Karyotyping Klinefelter syndrome Chromosomes Human Pair 8 Fluorescence in situ hybridization |
| Zdroj: | American Journal of Medical Genetics Part A. :488-495 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.31104 |
| Popis: | A boy with signs of Klinefelter syndrome, mild facial dysmorphic features, and severely retarded speech development displayed a female karyotype with mosaicism for two marker chromosomes 48,XX,+mar1,+mar2[68]/47,XX,+mar1[19]/47,XX,+mar2[6]/46,XX[8]. Using chromosomal microdissection, locus-specific fluorescence in situ hybridization (FISH), and PCR with several Y-chromosome markers, the larger supernumerary marker chromosome (SMC) was characterized as a ring Y-chromosome. Detection of the SRY-region explained the male phenotype. The smaller second marker chromosome contained the pericentromeric region of chromosome 8. We suggest that the co-occurrence of a partial Y-chromosome and partial trisomy 8 explain the severe speech delay and the facial dysmorphic features. |
| Databáze: | OpenAIRE |
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