Clinical and Molecular-Cytogenetic Evaluation of a Family With Partial Jacobsen Syndrome Without Thrombocytopenia Caused by an 5 Mb Deletion del(11)(q24.3)
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Clinical and Molecular-Cytogenetic Evaluation of a Family With Partial Jacobsen Syndrome Without Thrombocytopenia Caused by an 5 Mb Deletion del(11)(q24.3) Joanna Bernaciak, Krzysztof Szczałuba, Katarzyna Derwińska, Barbara Wiśniowiecka-Kowalnik, Ewa Bocian, Maria Małgorzata Sąsiadek, Izabela Makowska, Paweł Stankiewicz,* and Robert Śmigiel Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas Department of Genetics, Wrocław Medical University, Wrocław, Poland
منابع مشابه
Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality
Terminal 11q deletion, known as Jacobsen syndrome (JBS), is a rare genetic disorder associated with numerous dysmorphic features. We studied two cases with multiple congenital anomalies that were cytogenetically detected with deletions on 11q encompassing JBS region: 46,XX,der(11) del(11)(q24). Array comparative genomic hybridization (aCGH) analysis confirmed partial deletion of 11.8-11.9 Mb at...
متن کاملJacobsen syndrome without thrombocytopenia: a case report and review of the literature.
Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. The estimated occurrence of JS is about 1/100,000 births. The female/mal...
متن کاملJacobsen syndrome
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism...
متن کاملMolecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.
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 feature...
متن کاملJacobsen distal 11q deletion syndrome with a myelodysplastic change of hemopoietic cells.
We describe a male infant with unusual facial appearance, relative pancytopenia, bilateral simian creases, and an accessory nipple. Cytogenetic analysis showed deletion of the long arm of chromosome 11 [46,XY,del(11)(pter-->q23.2:)]. Bone-marrow study showed a myelodysplastic change of hemopoietic cells compatible with peripheral blood findings. Pachygyria of the temporal and frontal lobes was ...
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تاریخ انتشار 2008