Jacobsen syndrome without thrombocytopenia: a case report and review of the literature

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dc.authorid0000-0003-3587-6830
dc.authorid0000-0002-4060-0583
dc.authorid0000-0001-5992-9488
dc.authorid0000-0002-5630-3399
dc.authorwosidnişli, kemal/AAT-6434-2020
dc.authorwosidDonma, Metin/AAB-6079-2020
dc.authorwosidDonma, Mustafa Metin/ABF-2169-2021
dc.authorwosidPaketci, Cem/A-1490-2018
dc.authorwosidDonma, Orkide/AAI-1853-2019
dc.authorwosidNALBANTOGLU, BURCIN/A-5386-2018
dc.contributor.authorNalbantoğlu, Burçin
dc.contributor.authorDonma, Mustafa Metin
dc.contributor.authorNisli, Kemal
dc.contributor.authorPaketci, Cem
dc.contributor.authorKarasu, Erkut
dc.contributor.authorÖzdilek, Burcu
dc.contributor.authorMintaş, Nuriye Ece
dc.date.accessioned2022-05-11T14:37:12Z
dc.date.available2022-05-11T14:37:12Z
dc.date.issued2013
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractJacobsen 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/male ratio is 2:1. The patient admitted to our clinic at 3.5 years of age with a cardiac murmur and facial anomalies. Facial anomalies included trigonocephaly with bulging forehead, hypertelorism, telecanthus, downward-slanting palpebral fissures, and a carp-shaped mouth. The patient also had strabismus. An echocardiogram demonstrated perimembranous aneurysmatic ventricular septal defect and a secundum atrial defect. The patient was <3rd percentile for height and weight and showed some developmental delay. Magnetic resonance imaging (MRI) showed hyperintensive gliotic signal changes in periventricular cerebral white matter, and leukodystrophy was suspected. Chromosomal analysis of the patient showed terminal deletion of chromosome 11. The karyotype was designated 46, XX, del(11) (q24.1). A review of published reports shows that the severity of the observed clinical abnormalities in patients with JS is not clearly correlated with the extent of the deletion. Most of the patients with JS had short stature, and some of them had documented growth hormone deficiency, or central or primary hypothyroidism. In patients with the classical phenotype, the diagnosis is suspected on the basis of clinical findings:intellectual disability, facial dysmorphic features and thrombocytopenia. The diagnosis must be confirmed by cytogenetic analysis. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. In this report, we describe a patient with the clinical features of JS without thrombocytopenia. To our knowledge, this is the first case reported from Turkey.
dc.identifier.endpage206
dc.identifier.issn0041-4301
dc.identifier.issue2en_US
dc.identifier.pmid24192682
dc.identifier.startpage203
dc.identifier.urihttps://hdl.handle.net/20.500.11776/8619
dc.identifier.volume55
dc.identifier.wosWOS:000341414000012
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.institutionauthorNalbanto?lu, Burçin
dc.institutionauthorDonma, Mustafa Metin
dc.institutionauthorPaketci, Cem
dc.institutionauthorKarasu, Erkut
dc.institutionauthorÖzdilek, Burcu
dc.institutionauthorMintaş, Nuriye Ece
dc.language.isoen
dc.publisherTurkish J Pediatrics
dc.relation.ispartofTurkish Journal of Pediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectJacobsen syndrome
dc.subjectthrombocytopenia
dc.subject11q deletion
dc.subjectMolecular Characterization
dc.subjectDeletion
dc.subjectPatient
dc.titleJacobsen syndrome without thrombocytopenia: a case report and review of the literature
dc.typeArticle

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