First non-mosaic case of isopseudodicentric chromosome 18...

First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter → q22.1::q22.1 → pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome

M. Meins, D. Böhm, A. Großmann, E. Herting, B. Fleckenstein, C. Fauth, M.R. Speicher, R. Schindler, B. Zoll, I. Bartels, Peter Burfeind
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Volume:
127A
Year:
2004
Language:
english
Pages:
7
DOI:
10.1002/ajmg.a.20644
File:
PDF, 240 KB
english, 2004
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