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Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).
. 2007 Aug 01; 143A(15):1760-6.

Abstract

We report on an 8-month-old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated with the well-known clinical phenotypes of Wolf-Hirschhorn syndrome (WHS) and Beckwith-Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay, atrial septal defect (ASD), and left hydronephrosis. High-resolution cytogenetic analysis revealed a normal female karyotype, but subtelomeric fluorescence in situ hybridization (FISH) analysis revealed a der(4)t(4;11)(pter;pter). Both FISH and microarray CGH studies clearly demonstrated that the WHS critical regions 1 and 2 were deleted, and that the BWS imprinted domains (ID) 1 and 2 were duplicated on the der(4). Parental chromosome analysis revealed that the father carried a cryptic balanced t(4;11)(pter;pter). As expected, our patient manifests findings of both WHS (a growth retardation syndrome) and BWS (an overgrowth syndrome). We compare her unique phenotypic features with those that have been reported for both syndromes.

Authors+Show Affiliations

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.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 availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17603794

Citation

Mikhail, Fady M., et al. "Overlapping Phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann Syndromes in a Girl With Der(4)t(4;11)(pter;pter)." American Journal of Medical Genetics. Part A, vol. 143A, no. 15, 2007, pp. 1760-6.
Mikhail FM, Sathienkijkanchai A, Robin NH, et al. Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter). Am J Med Genet A. 2007;143A(15):1760-6.
Mikhail, F. M., Sathienkijkanchai, A., Robin, N. H., Prucka, S., Biggerstaff, J. S., Komorowski, J., Andersson, R., Bruder, C. E., Piotrowski, A., Diaz de Ståhl, T., Dumanski, J. P., & Carroll, A. J. (2007). Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter). American Journal of Medical Genetics. Part A, 143A(15), 1760-6.
Mikhail FM, et al. Overlapping Phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann Syndromes in a Girl With Der(4)t(4;11)(pter;pter). Am J Med Genet A. 2007 Aug 1;143A(15):1760-6. PubMed PMID: 17603794.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter). AU - Mikhail,Fady M, AU - Sathienkijkanchai,Achara, AU - Robin,Nathaniel H, AU - Prucka,Sandra, AU - Biggerstaff,Julie Sanford, AU - Komorowski,Jan, AU - Andersson,Robin, AU - Bruder,Carl E G, AU - Piotrowski,Arkadiusz, AU - Diaz de Ståhl,Teresita, AU - Dumanski,Jan P, AU - Carroll,Andrew J, PY - 2007/7/3/pubmed PY - 2008/1/17/medline PY - 2007/7/3/entrez SP - 1760 EP - 6 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 143A IS - 15 N2 - We report on an 8-month-old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated with the well-known clinical phenotypes of Wolf-Hirschhorn syndrome (WHS) and Beckwith-Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay, atrial septal defect (ASD), and left hydronephrosis. High-resolution cytogenetic analysis revealed a normal female karyotype, but subtelomeric fluorescence in situ hybridization (FISH) analysis revealed a der(4)t(4;11)(pter;pter). Both FISH and microarray CGH studies clearly demonstrated that the WHS critical regions 1 and 2 were deleted, and that the BWS imprinted domains (ID) 1 and 2 were duplicated on the der(4). Parental chromosome analysis revealed that the father carried a cryptic balanced t(4;11)(pter;pter). As expected, our patient manifests findings of both WHS (a growth retardation syndrome) and BWS (an overgrowth syndrome). We compare her unique phenotypic features with those that have been reported for both syndromes. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/17603794/Overlapping_phenotype_of_Wolf_Hirschhorn_and_Beckwith_Wiedemann_syndromes_in_a_girl_with_der_4_t_4 L2 - https://doi.org/10.1002/ajmg.a.31821 DB - PRIME DP - Unbound Medicine ER -