Volume 1, Number 4, Year 2012


Review Articles
Michael Ludwig and Heiko Reutter
Genome-wide array data and next generation sequencing unravel the etiology of urogenital malformations


Seyed Mohammad Akrami
Genetics of consanguineous marriage: Impact and importance of counseling


Original Articles
Rani R. Deepak and Tester F. Ashavaid
Screening of the CFTR gene in Indian patients


Maria De Luca, Paula C. Chandler-Laney, Howard Wiener, and Jose R. Fernandez
Common variants in the LAMA5 gene associate with fasting plasma glucose and serum triglyceride levels in a cohort of pre- and early pubertal children


Case Reports
Frank Crespo, Halit Pinar and Stefan Kostadinov
Cases of limb-body wall complex: Early amnion rupture, vascular disruption, or abnormal splitting of the embryo?


Mahmut Balkan, Mehmet Fidanboy, M. Nuri Özbek, M. Nail Alp, and Turgay Budak
Different chromosome Y abnormalities in a case with short stature


Mahmut Balkan, Mehmet Fidanboy, Hilmi İsi, Halit Akbaş, Sevgi Kalkanli, M. Nail Alp, and Turgay Budak
A case of complete tetraploidy in amniocentesis with normal karyotype in subsequent cordocentesis


Meena Balasubramanian, Kath Smith, Steve Williams, Paul D. Griffiths, Michael J. Parker, and Santosh R. Mordekar
Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion syndrome with concomitant 5p15 duplication