Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3).
作者： Tadeusz Mazurczak , Ewa Bocian , Beata Nowakowska , Ewa Obersztyn , Kamila Suchenek
DOI:
关键词: Genetics 、 Biology 、 dup 、 Microcephaly 、 Subtelomere 、 Gene duplication 、 Chromosomal inversion 、 Proband 、 Molecular biology 、 Breakpoint 、 Chromosome
摘要: We present a family with three cases of recombination aneusomy rec(5)dup(5q) originating from large parental pericentric inversion chromosome 5. The proband - 6-year-old girl mental retardation, speech delay, microcephaly, and slight facial dysmorphism was referred for subtelomere testing. FISH Multiprobe Chromoprobe T System (CytoCell) several BAC clones mapping to both re- gions 5, revealed recombinant paternal inv(5)(p15.33q35.3). same in the proband's father's twin-brother also identified his two mentally retarded daughters. distance breakpoints telomere was: 0.234-1.4 Mb 5p 4.1-4.8 5q. HR-CGH analysis confirmed duplication 5q subtelomeric region but did not identify any concomitant deletion subtelomere. Precise map- ping aneusomic regions enabled cat cry delay 5p15.33, making earlier localizations these features more precise. Our shows that at 5 is associated high risk progeny.
igr.poznan.pl 参考文章(25)
Michel Lehmann, Stephanie Warter, Jean-Victor Ruch, Karyotype with chromosomal abnormality with various inherited defects in the offspring (recombination aneusomy). Human Genetics. ,vol. 20, pp. 355- 359 ,(1973) , 10.1007/BF00273339
Deanna M Church, Ulla Bengtsson, K Vang Nielsen, John J Wasmuth, Erik Niebuhr, None, Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. American Journal of Human Genetics. ,vol. 56, pp. 1162- 1172 ,(1995)
Samantha J.L. Knight, Christa M. Lese, Kathrin S. Precht, Julie Kuc, Yi Ning, Sarah Lucas, Regina Regan, Mary Brenan, Alison Nicod, N. Martin Lawrie, Donald L.N. Cardy, Huy Nguyen, Thomas J. Hudson, Harold C. Riethman, David H. Ledbetter, Jonathan Flint, An optimized set of human telomere clones for studying telomere integrity and architecture. American Journal of Human Genetics. ,vol. 67, pp. 320- 332 ,(2000) , 10.1086/302998
Maria Kirchhoff, Tommy Gerdes, Jan Maahr, Hanne Rose, Claes Lundsteen, Automatic correction of the interfering effect of unsuppressed interspersed repetitive sequences in comparative genomic hybridization analysis. Cytometry. ,vol. 28, pp. 130- 134 ,(1997) , 10.1002/(SICI)1097-0320(19970601)28:2<130::AID-CYTO5>3.0.CO;2-J
A. Kleczkowska, J. P. Fryns, H. Van den Berghe, Pericentric inversions in man: personal experience and review of the literature Human Genetics. ,vol. 75, pp. 333- 338 ,(1980) , 10.1007/BF00284103
Maria Kirchhoff, Tommy Gerdes, Hanne Rose, Jan Maahr, Anne Marie Ottesen, Claes Lundsteen, Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry. ,vol. 31, pp. 163- 173 ,(1998) , 10.1002/(SICI)1097-0320(19980301)31:3<163::AID-CYTO3>3.0.CO;2-M
Fumiyo Ishii, Hiroko Fujita, Akira Nagai, Tohru Ogihara, Han-Suk Kim, Ryohzo Okamoto, Makoto Mino, Case report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants resulting from parental pericentric inversions on any chromosomes. American Journal of Medical Genetics. ,vol. 73, pp. 290- 295 ,(1997) , 10.1002/(SICI)1096-8628(19971219)73:3<290::AID-AJMG12>3.0.CO;2-E
A. Villa, M. Urioste, M. C. Carrascosa, S. Vázquez, A. Martínez, M. L. Martínez-Frías, Pericentric inversions of chromosome 4: report of a new family and review of the literature Clinical Genetics. ,vol. 48, pp. 255- 260 ,(2008) , 10.1111/J.1399-0004.1995.TB04100.X
A. de Perdigo, O. Gabriel-Robez, Y. Rumpler, Correlation between chromosomal breakpoint positions and synaptic behaviour in human males heterozygous for a pericentric inversion. Human Genetics. ,vol. 83, pp. 274- 276 ,(1989) , 10.1007/BF00285171
M. Rosenberg, C. Killoran, L. Dziadzio, S. Chang, D. Stone, J. Meck, D. Aughton, L. Bird, J. Bodurtha, S. Cassidy, J. Graham, A. Grix, A. Guttmacher, L. Hudgins, C. Kozma, R.C. Michaelis, R. Pauli, K. Peters, K. Rosenbaum, C. Tifft, D. Wargowski, M. Williams, L. Biesecker, Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Human Genetics. ,vol. 109, pp. 311- 318 ,(2001) , 10.1007/S004390100559