Auflistung Nach Schlagwort "Array CGH"

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Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3

Christopoulou, G.; Tzetis, M.; Konstantinidou, A. E.; Tsezou, A.; Kanavakis, E.; Kitsiou-Tzeli, S.; Velissariou, V. (2012)

Ring chromosomes are rare cytogenetic findings and are mostly associated with an abnormal phenotype. We report on the prenatal diagnosis of a ring chromosome 10 in a fetus in which talipes equinovarus was incidentally found ...
Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

Sarri, C.; Douzgou, S.; Gyftodimou, Y.; Tümer, Z.; Ravn, K.; Pasparaki, A.; Sarafidou, T.; Kontos, H.; Kokotas, H.; Karadima, G.; Grigoriadou, M.; Pandelia, E.; Theodorou, V.; Moschonas, N. K.; Petersen, M. B. (2011)

We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur ...