Tags

Type your tag names separated by a space and hit enter

Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.
. 2013 Feb; 161A(2):331-7.

Abstract

We report on a child with Jacobsen syndrome (JBS, OMIM 147791) and abnormalities consistent with Beckwith-Wiedemann syndrome (BWS, OMIM 130650). The constitutional karyotype was apparently normal, but FISH analysis with probes specific for the short and long arms of chromosome 11 found 11qter deletion with 11pter trisomy in 80% of the cells studied. Array-CGH identified breakpoints in the 11p15.3 and 11q24.1 regions consistent with Jacobsen and Beckwith-Wiedemann syndromes. We suggest that this chromosome imbalance results from a pericentric inversion of chromosome 11 inherited from the father, with mosaicism resulting from meiotic recombination of a paternal inversion followed by mitotic recombination during the first embryonic divisions. This hypothesis is supported by the results of microsatellite marker analysis. Three previous cases of pericentric inversion and recombination of chromosome 11 have been reported. Our case is unusual in that it combines the Jacobsen and Beckwith-Wiedemann syndromes with mosaicism.

Authors+Show Affiliations

Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Bron, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23322614

Citation

Putoux, Audrey, et al. "Jacobsen and Beckwith-Wiedemann Syndromes in a Child With Mosaicism for Partial 11pter Trisomy and Partial 11qter Monosomy." American Journal of Medical Genetics. Part A, vol. 161A, no. 2, 2013, pp. 331-7.
Putoux A, Labalme A, André JM, et al. Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy. Am J Med Genet A. 2013;161A(2):331-7.
Putoux, A., Labalme, A., André, J. M., Till, M., Schluth-Bolard, C., Berard, J., Bertrand, Y., Edery, P., Putet, G., & Sanlaville, D. (2013). Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy. American Journal of Medical Genetics. Part A, 161A(2), 331-7. https://doi.org/10.1002/ajmg.a.35708
Putoux A, et al. Jacobsen and Beckwith-Wiedemann Syndromes in a Child With Mosaicism for Partial 11pter Trisomy and Partial 11qter Monosomy. Am J Med Genet A. 2013;161A(2):331-7. PubMed PMID: 23322614.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy. AU - Putoux,Audrey, AU - Labalme,Audrey, AU - André,Jean-Marie, AU - Till,Marianne, AU - Schluth-Bolard,Caroline, AU - Berard,Jérôme, AU - Bertrand,Yves, AU - Edery,Patrick, AU - Putet,Guy, AU - Sanlaville,Damien, Y1 - 2013/01/15/ PY - 2012/06/21/received PY - 2012/09/13/accepted PY - 2013/1/17/entrez PY - 2013/1/17/pubmed PY - 2013/7/3/medline SP - 331 EP - 7 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 161A IS - 2 N2 - We report on a child with Jacobsen syndrome (JBS, OMIM 147791) and abnormalities consistent with Beckwith-Wiedemann syndrome (BWS, OMIM 130650). The constitutional karyotype was apparently normal, but FISH analysis with probes specific for the short and long arms of chromosome 11 found 11qter deletion with 11pter trisomy in 80% of the cells studied. Array-CGH identified breakpoints in the 11p15.3 and 11q24.1 regions consistent with Jacobsen and Beckwith-Wiedemann syndromes. We suggest that this chromosome imbalance results from a pericentric inversion of chromosome 11 inherited from the father, with mosaicism resulting from meiotic recombination of a paternal inversion followed by mitotic recombination during the first embryonic divisions. This hypothesis is supported by the results of microsatellite marker analysis. Three previous cases of pericentric inversion and recombination of chromosome 11 have been reported. Our case is unusual in that it combines the Jacobsen and Beckwith-Wiedemann syndromes with mosaicism. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/23322614/Jacobsen_and_Beckwith_Wiedemann_syndromes_in_a_child_with_mosaicism_for_partial_11pter_trisomy_and_partial_11qter_monosomy_ L2 - https://doi.org/10.1002/ajmg.a.35708 DB - PRIME DP - Unbound Medicine ER -