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Partial trisomy 18 (q11 leads to qter) in an infant and aborted fetus resulting from a balanced paternal translocation t (13;18) (q32:q11)

Rosenmann, A.; Isacson, M.; Cohen, R.; Segal, M.; Cohen, M.M.

Annales de Genetique 21(1): 60-64

1978

ISSN/ISBN: 0003-3995
PMID: 308346
Document Number: 130763
Partial trisomy 18 is described in a two month old female with severe mental, motor and growth retardation, associated with multiple congenital anomalies characteristic of complete trisomy 18. Trisomy for almost all of 18q resulted from adjacent I segregation of a paternally inherited translocation t(13; 18)(q32:q11). The balanced translocation was observed in three generations of the family. Partial trisomy 18q identical to that observed in the proband was found in a subsequent miscarriage.

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