Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analysis
| Autor: | J. Gheuens, Berten Ceulemans, I. Buntinx, Bernadette Van Roy, Jan E. Dumon, Franki Speleman, Patrick Willems, Marie-Noëlle Van Thienen, Nadine Van Roy, Herman Willekens, Kathelijne Mangelschots, Joke Beuten |
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| Rok vydání: | 1992 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Monosomy Chromosomal translocation Biology Fluorescence Translocation Genetic Chromosome 15 Angelman syndrome Genetics medicine Humans Abnormalities Multiple Genetics (clinical) Chromosome 13 Chromosomes Human Pair 15 medicine.diagnostic_test Chromosomes Human Pair 13 Infant Newborn Infant Nucleic Acid Hybridization Karyotype medicine.disease Molecular biology Blotting Southern Genetic marker Female DNA Probes Polymorphism Restriction Fragment Length Fluorescence in situ hybridization |
| Zdroj: | Human genetics |
| ISSN: | 0340-6717 |
| Popis: | We describe two female siblings with similar clinical features consisting of hydrocephalus, scaphocephaly, hypotonia, mongoloid eye slant, blepharophimosis, micrognathia, supernumerary mouth frenula and mental retardation. Routine cytogenetic studies in the elder patient did not reveal any abnormality, and initially it was assumed that the syndrome had an autosomal recessive inheritance. However, a slightly larger chromosome 13 was seen in routine G-banded metaphases of the mother and the youngest of the two siblings. A shorter chromosome 15 was detected in the mother only. High resolution banding showed that the abnormal chromosome 13 contained an extra G-positive band at 13q12. The short chromosome 15 in the mother appeared to have a deletion of band q12. Fluorescence in situ hybridization using DNA markers specific to chromosomes 13 and 15 unequivocally showed that the mother was a carrier of a balanced reciprocal translocation t(13;15)(q12;q13), whereas the youngest sibling's karyotype was 46,XX,-13,+der(15)t(13;15)(q12;q13)mat, resulting in partial monosomy 13pter----q12 and partial trisomy 15pter----q13. The proband is thus trisomic for the critical region responsible for Prader-Willi syndrome and Angelman syndrome; this was confirmed by DNA analysis demonstrating one paternal and two maternal alleles from multiallelic marker loci mapping to 15q11-q13. This report illustrates the sensitivity and specificity offered by fluorescence in situ hybridization and its usefulness in the diagnosis and delineation of subtle chromosomal rearrangements. |
| Databáze: | OpenAIRE |
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