Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q
| Autor: | Aubrey Milunsky, Vijay S. Tonk, Peter Osella, Bai-Lin Wu, James Skare, B R Haddad, Herman E. Wyandt |
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| Rok vydání: | 2008 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Acrocentric chromosome In situ hybridization Biology Chromosome 15 Angelman syndrome Centromere Genetics medicine Humans Abnormalities Multiple Genetics (clinical) Chromosomes Human Pair 15 Cytogenetics Infant nutritional and metabolic diseases Chromosome Karyotype medicine.disease Molecular biology nervous system diseases Karyotyping Chromosome Deletion |
| Zdroj: | Clinical Genetics. 48:151-155 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1995.tb04076.x |
| Popis: | A 4-month-old child with multiple anomalies was determined to have an interstitial deletion of chromosome 15, i.e., del(15) (q12q14). The deletion appears not to be a typical deletion of 15q12 such as seen in Angelman and Prader-Willi syndromes, but appears to be more distal, involving either loss of all of 15q12 and part of 15q14, or part of 15q12 and most of 15q14. In either case, 15q13 is missing. Fluorescent in situ hybridization with probes for 15 centromere (D15Z), pericentromeric satellite sequences (D15Z1), and chromosome 15 painting probes shows the deleted chromosome to involve only 15 and no other acrocentric chromosome. Hybridization with probes for the AS and PWS loci (D15S11 and GABAB3, Oncor) show both sites to be intact in the deleted 15. The case is compared with two other reports with overlapping interstitial deletions of proximal 15q, neither of which shows typical features of Angelman or Prader-Willi syndromes. |
| Databáze: | OpenAIRE |
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