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Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24).
Ann Hum Genet. 2006 Nov; 70(Pt 6):958-64.AH

Abstract

Here we report on a male infant presenting the typical pattern of Jacobsen syndrome including trigonocephaly, thrombocytopenia, congenital heart defect, urethral stenosis, and partial agenesis of the corpus callosum. Conventional karyotyping, FISH, SKY and CGH analyses showed that the region distal to the MLL locus on 11q23 was lost and replaced by the distal region of 11p, leading to a partial trisomy of 11p and a partial monosomy of 11q. According to ISCN (1995) the karyotype can be described as 46,XY,add(11)(q2?3). ish 11ptel(D11S2071x3),11qtel(VIJyRM2072x1). Array-CGH analysis allowed us to narrow down the breakpoints to 11p15.1 and 11q24.1. Methylation analyses of genes located on 11p showed an increased level of the non-methylated paternal allele of the KCNQ1OT1 gene, confirming the concomitant presence of Beckwith-Wiedemann syndrome (BWS). The phenotype resulting from the 11q deletion seems to dominate the phenotype due to the distal 11p trisomy. Investigation of the parents revealed that this chromosomal rearrangement was caused by a paternal pericentric inversion inv(11)(p15q24). Since chromosomal aberrations like the one described here can easily be overlooked during routine chromosome analysis, combined FISH analysis using subtelomeric and possibly additional probes should be applied if there is any doubt about the integrity of telomeric regions.

Authors+Show Affiliations

Institute of Cell and Molecular Pathology, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany. Gadzicki.Dorothea@mh-hannover.deNo 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 availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

17044870

Citation

Gadzicki, D, et al. "Jacobsen Syndrome and Beckwith-Wiedemann Syndrome Caused By a Parental Pericentric Inversion Inv(11)(p15q24)." Annals of Human Genetics, vol. 70, no. Pt 6, 2006, pp. 958-64.
Gadzicki D, Baumer A, Wey E, et al. Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). Ann Hum Genet. 2006;70(Pt 6):958-64.
Gadzicki, D., Baumer, A., Wey, E., Happel, C. M., Rudolph, C., Tönnies, H., Neitzel, H., Steinemann, D., Welte, K., Klein, C., & Schlegelberger, B. (2006). Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). Annals of Human Genetics, 70(Pt 6), 958-64.
Gadzicki D, et al. Jacobsen Syndrome and Beckwith-Wiedemann Syndrome Caused By a Parental Pericentric Inversion Inv(11)(p15q24). Ann Hum Genet. 2006;70(Pt 6):958-64. PubMed PMID: 17044870.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). AU - Gadzicki,D, AU - Baumer,A, AU - Wey,E, AU - Happel,C M, AU - Rudolph,C, AU - Tönnies,H, AU - Neitzel,H, AU - Steinemann,D, AU - Welte,K, AU - Klein,C, AU - Schlegelberger,B, PY - 2006/10/19/pubmed PY - 2006/12/12/medline PY - 2006/10/19/entrez SP - 958 EP - 64 JF - Annals of human genetics JO - Ann. Hum. Genet. VL - 70 IS - Pt 6 N2 - Here we report on a male infant presenting the typical pattern of Jacobsen syndrome including trigonocephaly, thrombocytopenia, congenital heart defect, urethral stenosis, and partial agenesis of the corpus callosum. Conventional karyotyping, FISH, SKY and CGH analyses showed that the region distal to the MLL locus on 11q23 was lost and replaced by the distal region of 11p, leading to a partial trisomy of 11p and a partial monosomy of 11q. According to ISCN (1995) the karyotype can be described as 46,XY,add(11)(q2?3). ish 11ptel(D11S2071x3),11qtel(VIJyRM2072x1). Array-CGH analysis allowed us to narrow down the breakpoints to 11p15.1 and 11q24.1. Methylation analyses of genes located on 11p showed an increased level of the non-methylated paternal allele of the KCNQ1OT1 gene, confirming the concomitant presence of Beckwith-Wiedemann syndrome (BWS). The phenotype resulting from the 11q deletion seems to dominate the phenotype due to the distal 11p trisomy. Investigation of the parents revealed that this chromosomal rearrangement was caused by a paternal pericentric inversion inv(11)(p15q24). Since chromosomal aberrations like the one described here can easily be overlooked during routine chromosome analysis, combined FISH analysis using subtelomeric and possibly additional probes should be applied if there is any doubt about the integrity of telomeric regions. SN - 0003-4800 UR - https://www.unboundmedicine.com/medline/citation/17044870/Jacobsen_syndrome_and_Beckwith_Wiedemann_syndrome_caused_by_a_parental_pericentric_inversion_inv_11__p15q24__ L2 - https://doi.org/10.1111/j.1469-1809.2006.00271.x DB - PRIME DP - Unbound Medicine ER -