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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 ...
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 ...
De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis
(1999)
A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication ...
De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis
(1999)
A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication ...
Trisomy 16q21 -> qter: Seven-Year Follow-Up of a Girl With Unusually Long Survival
(WILEY-LISS, 2010)
The 16q21 -> qter duplication is a chromosomal abnormality rarely found in liveborn infants, with only four published cases. We report here on the 7-year follow-up of a female patient with trisomy 16q21 -> qter due to a ...
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 ...
Copy number variation of individual cattle genomes using next-generation sequencing
(Cold Spring Harbor Lab Press, Publications Dept, 2012-04-01)
Copy number variations (CNVs) affect a wide range of phenotypic traits; however, CNVs in or near segmental duplication regions are often intractable. Using a read depth approach based on next-generation sequencing, we ...