【摘 要】
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Small supernumerary marker chromosomes are present in about 0.05% of the human population.In approximately 28% of persons with these markers (excluding the ~60% derived from one of the acrocentric chr
【机 构】
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Key Lab for Major Obstetric Diseases of Guangdong Province, Experimental Department of Institute of
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Small supernumerary marker chromosomes are present in about 0.05% of the human population.In approximately 28% of persons with these markers (excluding the ~60% derived from one of the acrocentric chromosomes), an abnormal phenotype is observed.Cat eye syndrome (CES) has a large phenotypic variability, ranging from near normal to severe malformations.We report on a foetus with nomal ultrasound feature.Cytogenetic analysis showed the presence of a supernumerary marker chromosome by multiplex ligation-dependent probe amplification (MLPA) as part of chromosome 22, conferring the presence of an extra 22q11 copy, not including the region of DiGeorge syndrome.
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