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Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.
Am J Med Genet A. 2013 Jul; 161A(7):1797-802.AJ

Abstract

We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease-causing in Holt-Oram and ulnar-mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array-CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability.

Authors+Show Affiliations

Obstetrics and Gynecology Department, Hôpital Necker-Enfant Malades, AP-HP, Paris, 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 availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23713051

Citation

Alby, Caroline, et al. "Contiguous Gene Deletion of TBX5 and TBX3 Leads to a Varible Phenotype With Combined Features of Holt-Oram and Ulnar-mammary Syndromes." American Journal of Medical Genetics. Part A, vol. 161A, no. 7, 2013, pp. 1797-802.
Alby C, Bessieres B, Bieth E, et al. Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes. Am J Med Genet A. 2013;161A(7):1797-802.
Alby, C., Bessieres, B., Bieth, E., Attie-Bitach, T., Fermont, L., Citony, I., Razavi, F., Vekemans, M., Escande, F., Manouvrier, S., Malan, V., & Amiel, J. (2013). Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes. American Journal of Medical Genetics. Part A, 161A(7), 1797-802. https://doi.org/10.1002/ajmg.a.36054
Alby C, et al. Contiguous Gene Deletion of TBX5 and TBX3 Leads to a Varible Phenotype With Combined Features of Holt-Oram and Ulnar-mammary Syndromes. Am J Med Genet A. 2013;161A(7):1797-802. PubMed PMID: 23713051.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes. AU - Alby,Caroline, AU - Bessieres,Bettina, AU - Bieth,Eric, AU - Attie-Bitach,Tania, AU - Fermont,Laurent, AU - Citony,Isabelle, AU - Razavi,Ferechté, AU - Vekemans,Michel, AU - Escande,Fabienne, AU - Manouvrier,Sylvie, AU - Malan,Valérie, AU - Amiel,Jeanne, Y1 - 2013/05/24/ PY - 2012/08/21/received PY - 2013/04/28/accepted PY - 2013/5/29/entrez PY - 2013/5/29/pubmed PY - 2014/2/15/medline SP - 1797 EP - 802 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 161A IS - 7 N2 - We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease-causing in Holt-Oram and ulnar-mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array-CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/23713051/Contiguous_gene_deletion_of_TBX5_and_TBX3_leads_to_a_varible_phenotype_with_combined_features_of_Holt_Oram_and_ulnar_mammary_syndromes_ L2 - https://doi.org/10.1002/ajmg.a.36054 DB - PRIME DP - Unbound Medicine ER -