15q26-microdeletio-szindróma

Katalin Szakszon, Anikó Ujfalusi, Erzsébet Balogh, Gábor Mogyorósy, Enikő Felszeghy, Judit Szilvássy, Edit Horkay, Ervin Berényi, Gabriella Merő, Alida C. Knegt

Research output: Contribution to journalArticle*Academicpeer-review

Abstract

The association of short stature, microcephaly, congenital cardiac anomaly and intellectual deficit should always raise the suspicion of chromosomal etiology. If G-banded karyotyping fails to detect large chromosomal aberrations, array comparative genomic hybridization (array CGH) should be performed to screen for submicroscopic pathological copy number changes. The authors present a six-year-old girl whose symptoms arose from a 4.1 Mb loss in the 15q26.2-26.3 telomeric region. The syndrome is characterized by a resistance to the insulin-like growth factor 1 - in our case the increased level of the insulin-like growth factor 1 together with the persistent longitudinal growth failure was an important finding and differential diagnostic feature. A brief overview of the literature is provided. Abstract available from the publisher
Original languageEnglish
Pages (from-to)362-364
JournalORVOSI HETILAP
Volume155
Issue number9
DOIs
Publication statusPublished - 2014

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