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Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins

Melis, Danielaa; Pia Sperandeo, Mariab; Perone, Luciaa; Staiano, Annamariaa; Andria, Generosoa; Sebastio, Gianfrancoa

doi: 10.1097/

The ‘13q-’ syndrome shows widely variable manifestations. Investigation of the involvement of different tissues has never been reported in patients with 13q- syndrome previously.

We describe a patient with mosaicism for del(13q) and clinical features of 13q- syndrome. The mother of the patient was professionally exposed to aniline colorants and glue components during the whole pregnancy. The patient had dysmorphic features, skeletal anomalies and brain malformations with agenesis of the corpus callosum, vermian hypoplasia and IVth ventricular system abnormalities. Eye examination revealed chorioretinal coloboma and irregular dispersion of retinal pigment in the right eye. The karyotype analyses and the molecular studies performed on peripheral lymphocytes, oral swab and cells of urinary tract were normal whereas a deletion of the long arm of chromosome 13 (13q13.2) was found in skin fibroblasts and in hair cells.

We hypothesized that the 13q deletion arose during the third week after conception possibly due to a teratogenic effect and that tissue of mesodermal and ectodermal origin are involved.

We suggest analysing a fibroblast karyotype when a diagnosis of 13q- syndrome is suspected on clinical ground. The role of teratogens in causing this type of mosaic chromosome abnormality also warrants further investigation.

aDepartment of Pediatrics, Federico II University, Naples, Italy

bDulbecco Telethon Institute, Rome

Correspondence and requests for reprints to Dr Daniela Melis, Department of Pediatrics, Federico II University, Via Sergio Pansini 5, 80100 Naples

Tel: +39 0817 462673; fax: +39 0817 463116;


Received 14 April 2005 Accepted 5 August 2005

© 2006 Lippincott Williams & Wilkins, Inc.