Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p? (CROSBI ID 171671)
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Podaci o odgovornosti
Liehr, Thomas ; Bartels, I. ; Zoll, B. ; Ewers, Elisabeth ; Mrasek, Kristin ; Kosyakova, Nadezda ; Merkas, Martina ; Hamid, Ahmed Basheer ; von Eggeling, Ferdinand ; Posorski, Nicol ; Weise, Anja
engleski
Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p?
Unbalanced chromosomal abnormalities (UBCA) are reported for >50 euchromatic regions of almost all human autosomes. UBCA are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on a partial trisomy of chromosome 4 of the centromere-near region of the short arm of chromosome 4 present as a small supernumerary marker chromosome (sSMC). The sSMC was present in >70% of amnion cells and in 60% of placenta. Further delineation of the size of the duplicated region was done by molecular cytogenetics and array comparative genomic hybridization. Even though the sSMC lead to a partial trisomy of ~9 megabase pairs, a healthy child was born, developing normally at 1 year of age. No comparable cases are available in the literature. Thus, we discuss here the possibility of having found a yet unrecognized chromosomal region subject to UBCA.
4p14; Duplication; Small supernumerary marker chromosome; Unbalanced chromosomal abnormalities
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano