Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome

American Journal of Medical Genetics. Part a
Sharon L WengerMarybeth Hummel

Abstract

The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris-Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic features, developmental delay, and Paris-Trousseau syndrome. The karyotype of the patient is 46,XX,del(11)(q24.1q24.3). The interstitial deletion was confirmed using FISH probes for distal 11q, and the breakpoints were characterized by microarray analysis. This is the first molecularly characterized interstitial deletion in a patient with the clinical features of Jacobsen syndrome. The deletion includes FLI-1, but not JAM-3, which will help to determine the critical genes involved in this syndrome.

References

Jul 3, 2004·The Journal of Clinical Investigation·Hana RaslovaRémi Favier
Jul 22, 2004·American Journal of Medical Genetics. Part a·Paul D GrossfeldChristopher Jones

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Citations

Mar 10, 2009·Orphanet Journal of Rare Diseases·Teresa MattinaPaul Grossfeld
Jan 9, 2008·Blood Reviews·Isabelle I SallesHans Deckmyn
Jun 18, 2009·American Journal of Medical Genetics. Part a·Maoqing YePaul Grossfeld
May 19, 2009·American Journal of Medical Genetics. Part a·Laura J C M Van ZutvenPino J Poddighe
Sep 12, 2012·American Journal of Medical Genetics. Part a·Andrea GuerinDavid Chitayat
Dec 6, 2011·American Journal of Medical Genetics. Part a·Ikuko TakahashiToshiyuki Yamamoto
Jan 17, 2013·American Journal of Medical Genetics. Part a·Audrey PutouxDamien Sanlaville
May 27, 2010·Pediatrics International : Official Journal of the Japan Pediatric Society·Zuhre KayaCandan Ozogul
Aug 19, 2015·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Remi FavierPaul Grossfeld
May 10, 2016·Molecular Cytogenetics·Jiasun SuYiping Shen

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