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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

(1992) HUMAN GENETICS. 89(4). p.407-413
Author
Organization
Abstract
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.
Keywords
ORIGIN, 15Q, PROBES, METAPHASE, DUPLICATION, ABERRATIONS, CYTOGENETIC ANALYSIS, PRADER-WILLI SYNDROME, SUPPRESSION HYBRIDIZATION, SEQUENCES

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Chicago
Mangelschots, Kathelijne, Bernadette Van Roy, Franki Speleman, Nadine Van Roy, Jan Gheuens, Joke Beuten, Inge Buntinx, et al. 1992. “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.” Human Genetics 89 (4): 407–413.
APA
Mangelschots, K., Van Roy, B., Speleman, F., Van Roy, N., Gheuens, J., Beuten, J., Buntinx, I., et al. (1992). 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. HUMAN GENETICS, 89(4), 407–413.
Vancouver
1.
Mangelschots K, Van Roy B, Speleman F, Van Roy N, Gheuens J, Beuten J, et al. 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. HUMAN GENETICS. 1992;89(4):407–13.
MLA
Mangelschots, Kathelijne, Bernadette Van Roy, Franki Speleman, et al. “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.” HUMAN GENETICS 89.4 (1992): 407–413. Print.
@article{234880,
  abstract     = {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--{\textrangle}q12 and partial trisomy 15pter--{\textrangle}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.},
  author       = {Mangelschots, Kathelijne and Van Roy, Bernadette and Speleman, Franki and Van Roy, Nadine and Gheuens, Jan and Beuten, Joke and Buntinx, Inge and Van Thienen, Marie-No{\"e}lle and Willekens, Herman and Dumon, Jan and Ceulemans, Berten and Willems, Patrick J},
  issn         = {0340-6717},
  journal      = {HUMAN GENETICS},
  language     = {eng},
  number       = {4},
  pages        = {407--413},
  title        = {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},
  url          = {http://dx.doi.org/10.1007/BF00194312},
  volume       = {89},
  year         = {1992},
}

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