Deletion 15q26 syndrome

• Published in: Orvosi hetilap Vol. 155; no. 9; p. 362
• Main Authors: Szakszon, Katalin, Ujfalusi, Anikó, Balogh, Erzsébet, Mogyorósy, Gábor, Felszeghy, Enikő, Szilvássy, Judit, Horkay, Edit, Berényi, Ervin, Merő, Gabriella, Knegt, Alida C
• Format: Journal Article
• Language: Hungarian
• Published: Hungary 02.03.2014
• Subjects: Child; Chromosome Aberrations; Chromosomes, Human, Pair 15 - genetics; Comparative Genomic Hybridization; Craniofacial Abnormalities - genetics; Diagnosis, Differential; Dwarfism - genetics; Female; Gene Deletion; Growth Disorders - genetics; Heart Defects, Congenital - genetics; Humans; In Situ Hybridization, Fluorescence; Insulin-Like Growth Factor I - metabolism; Karyotyping; Magnetic Resonance Imaging; Microcephaly - genetics; Syndrome; microcephaly; attention deficit hyperactivity; microcephalia; IGF-1-rezisztencia; intellectual deficit; IGF1 resistance to; figyelemhiányos hiperaktivitás; mentális retardáció
• ISSN: 0030-6002
• DOI: 10.1556/OH.2014.29826

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.