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A new case of proximal 10q partial trisomy
(BMJ Publishing Group, 1991)
We report on a girl with mild phenotypic abnormalities and duplication of chromosome 10q11----10q22. The similarities to two previously reported cases with an identical chromosomal aberration provide further support for ...
Pure Duplication 1q41-qter: Further Delineation of Trisomy 1q Syndromes
(Wiley-Blackwell, 2008-10-15)
Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched ...
Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 -> pter and partial trisomy 1q41 -> qter suggests neo-telomere formation in stabilizing the deleted chromosome
(Wiley-Blackwell, 2006-01-01)
We report on a clinical and molecular cytogenetic study of a patient who presents a complex chromosomal rearrangement with two different cell lines. Using high-resolution GTG handing and fluorescence in situ hybridization ...
A Rare Case of Trisomy 15pter-q21.2 Due to a de Novo Marker Chromosome
(Wiley-Blackwell, 2010-03-01)
Supernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are ...
Duplication 9p and their implication to phenotype
(Biomed Central Ltd, 2014-12-20)
Background: Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete ...
Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications
(BioMed Central, 2014-04-24)
Abstract
Background
Complex small supernumerary marker chromosomes (sSMCs) consist of chromosomal material derived from more than one chromosome and have been implicated ...