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Asian Journal of Andrology (2009) 11: 617-622. doi: 10.1038/aja.2009.37; published online 24 August 2009.
Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity
Altu Koç1, S. Ödül Onur2, Mehmet Ali Ergün1 and E. Ferda Perçin1
1 Department of Medical Genetics, Gazi University, Ankara 06500, Turkey
2 Private Practice, Tunali Hilmi Cad. 70/18 06680 Kavaklidere Ankara 06680, Turkey
Correspondence: Associate Professor Mehmet Ali Ergün, Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara 06500, Turkey. Fax: +90-312-2024-635 E-mail: ergun@tr.net
Received 16 December 2008; Revised 22 April 2009; Accepted 21 May 2009; Published online 24 August 2009.
| Abstract |
Supernumerary marker chromosome 15 (sSMC[15]) is the most frequent marker chromosome, and it is generally regarded as unimportant if it does not contain the Prader–Willi/Angelman syndrome critical region (PWACR). The clinical importance of the larger markers in association with the critical region is mentioned in almost all reports related to marker chromosome 15, and smaller markers are solely associated with minor dysmorphic features, azoospermia and recurrent miscarriages. However, these small sSMC(15)s without the PWACR may also determine a specific phenotype. A dysmorphic examination of an azoospermic patient in a genetics clinic was performed and was followed by a peripheral blood lymphocyte chromosomal analysis according to standard cytogenetic methods. Nucleolar region (NOR) banding, C-banding, fluorescence in situ hybridization and a molecular investigation of Y-microdeletions were also performed. The clinical evaluation identified dysmorphic features accompanied with azoospermia and severe 'Angle Class II, Division 1 Open Bite Deformity'. The molecular cytogenetic study revealed the small sSMC(15). In addition, a Y-microdeletion analysis showed that the azoospermia was not the result of a deletion. Although the presented case might represent a coincidental example of supernumerary marker 15 and mandibular anomaly association, the condition may also define a specific phenotype that may be more than azoospermia. This condition may be characterized by infertility, malar hypoplasia, mandibular anomaly, keloid formation and minor dysmorphic features.
Keywords: auriculocondylar syndrome, azoospermia, infertility, isodicentric 15q, open bite deformity, small supernumerary marker chromosome 15 |
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