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Nasiri F.,Blood Transfusion Organization Research Center | Mahjoubi F.,Blood Transfusion Organization Research Center | Mahjoubi F.,Iran National Institute of Genetic Engineering and Biotechnology | Babamohammadi G.,Blood Transfusion Organization Research Center
Balkan Journal of Medical Genetics | Year: 2010

Cytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main features included: frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly and hypotonia. Source


Mahjoubi F.,Blood Transfusion Organization Research Center | Mahjoubi F.,Iran National Institute of Genetic Engineering and Biotechnology | Nasiri F.,Blood Transfusion Organization Research Center | Torabi R.,Iran National Institute of Genetic Engineering and Biotechnology
Balkan Journal of Medical Genetics | Year: 2011

We present clinical and cytogenetic data on a 7-year-old female child with partial trisomy for 9p22→9pter as a result of a maternal balanced reciprocal translocation. Her karyotype was ascertained as 46, XX, dec(4)t(4;9)(q35; p22)mat. The father had a normal karyotype, while the mother had an apparently balanced translocation involving chromosomes 4 and 9 [46, XX, t(4;9)(q35;p22)]. This case will be briefly compared with other published cases of a similar translocation. Source

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