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Am J Med Genet. 2002 Jan 15;107(2):174-6.

Significance of a prenatally diagnosed del(10)(q23).

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Department of Pathology, Long Island Jewish Medical Center, The Long Island Campus of the Albert Einstein College of Medicine, New Hyde Park, New York 11040, USA.


Structural chromosome mosaicism is rare. We report a case of prenatal mosaicism for a deletion of chromosome 10(q23). To our knowledge, there are only three reports of prenatally diagnosed cases of del(10)(q23). Two of these cases were due to an inherited fragile site. In the present case amniocentesis revealed 46,XY,del(10)(q23)[9]/46,XY[45]. Follow-up chromosome analysis of peripheral blood and placental tissue from a phenotypically normal liveborn male revealed the del(10)(q23) in only 3/100 blood cells grown in low-folate medium. It appears that prenatally diagnosed deleted (10q) mosaicism represents culture artifact and is not clinically significant.

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