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    Array-cgh and clinical findings in a patient with a small supernumerary r(8) mosaicism
    (Editions Medecine et Hygiene Ch. de la Mousse 46 CP 475, Chene-Bourg CH-1225, 2014) Celep Eyüpoğlu, Figen; Akkoyunlu Sünnetçi, Deniz; Cine, Naci; Savli, Hakan; Ökten; Gülaçikgöz, E.; Sönmez, Fatma Müjgan
    Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism: Small supernumerary ring chromosomes (sSRC) represent a subset of small supernumerary marker chromosomes (sSMC) where r(8) is relatively common. The phcnotype sSRC(8) ranges from almost normal to variable degrees of abnormalities in mosaic or non-mosaic conditions. We present a new patient of de novo mosaic supernumerary ring chromosome 8 which has trisomy of a region of chromosome 8pll.21-q21.13. Mosaicism for a ring chromosome was showed by routine karyotyping that revealed a karyotype of mos47XY,+r(?) [47]/46 XY [36] and we performed array comparative genomic hybridization (array-CGH) in order to precisely define the extension about chromosomal origin of the duplicated region in a patient. Array-CGH analysis confirmed that the sSRC derived a 43.921 Mb genomic gain of chromosome 8 (pll.21-q21.13). Common clinical features of the patient included multiple congenital anomalies, developmental delay, thoracolumbar scoliosis, mild pulmonary stenosis, laryngomalacia, hypospadias and atypical facial appearance. With this study a patient involving mosaic trisomy 8pll.21-q21.13 along with clinical properties, is described and compared to previously reported cases involving partial trisomy 8q. © 2014 Elsevier B.V., All rights reserved.
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    Hemihyperplasia-multiple lipomatosis syndrome associated with hydrocephalus
    (Editions Medecine et Hygiene Ch. de la Mousse 46 CP 475, Chene-Bourg CH-1225, 2014) Erpolat, By S.; Tekerekoğlu, Bülent; Sönmez, Fatma Müjgan
    Hemihyperplasia-multiple lipomatosis syndrome associated with hydrocephalus: Hcmihypcrplasia- multiple lipomatosis syndrome (HMLS) is characterized by subcutaneous lipomatosis and an asymmetric overgrowth (hemihyperplasia). We report an extremely rare case of HMLS associated with hydrocephalus, emphasizing the clinical features and differential diagnosis. © 2015 Elsevier B.V., All rights reserved.
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    Phacomatosis pigmentovascularis type IIB associated with Sturge-Weber syndrome: A case report and review of the literature
    (2013) Sönmez, Fatma Müjgan; Aksoy, Ays?e; Sarı, Ahmet; Erpolat, Seval; Özkaya, A. K.
    [No abstract available]