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Five cases with different abnormalities of chromosome 18 are described: one case with trisomy 18, two cases with ring 18, one case with partial trisomy 18q and one case with a mosaic 18p-/iso 18q. The karyotypes of the parents were normal. Cytogenetic analysis was performed on PHA stimulated blood lymphocytes. GTG, QFQ, MTX banding techniques were used. Karyotype-phenotype correlations are made. All patients present mental retardation, hypotonia and facial dismorphisms. The different degree of mental retardation and the clinical signs are in relation to the different size of deletions or trisomies of the short or long arm of chromosome 18. In the case with mosaicism 18p-/iso18q the phenotype is determined from the chromosomal abnormality more frequent in the cells (18p-).
R Vivarelli, and
M Paolieri, and
C Anichini, and
R Scarinci, and
R Berardi, and
L Rosaia, and
L Pucci
March 1972,
La Nouvelle presse medicale,
R Vivarelli, and
M Paolieri, and
C Anichini, and
R Scarinci, and
R Berardi, and
L Rosaia, and
L Pucci
June 1997,
Annals of the New York Academy of Sciences,
R Vivarelli, and
M Paolieri, and
C Anichini, and
R Scarinci, and
R Berardi, and
L Rosaia, and
L Pucci
November 1994,
American journal of medical genetics,
R Vivarelli, and
M Paolieri, and
C Anichini, and
R Scarinci, and
R Berardi, and
L Rosaia, and
L Pucci
December 1986,
Cancer research,
R Vivarelli, and
M Paolieri, and
C Anichini, and
R Scarinci, and
R Berardi, and
L Rosaia, and
L Pucci
August 1995,
Cancer genetics and cytogenetics,
R Vivarelli, and
M Paolieri, and
C Anichini, and
R Scarinci, and
R Berardi, and
L Rosaia, and
L Pucci
January 2002,
Reproductive biomedicine online,
R Vivarelli, and
M Paolieri, and
C Anichini, and
R Scarinci, and
R Berardi, and
L Rosaia, and
L Pucci
May 1976,
Klinische Padiatrie,
R Vivarelli, and
M Paolieri, and
C Anichini, and
R Scarinci, and
R Berardi, and
L Rosaia, and
L Pucci
March 2010,
European journal of haematology,
R Vivarelli, and
M Paolieri, and
C Anichini, and
R Scarinci, and
R Berardi, and
L Rosaia, and
L Pucci
September 1996,
Minerva ginecologica,
R Vivarelli, and
M Paolieri, and
C Anichini, and
R Scarinci, and
R Berardi, and
L Rosaia, and
L Pucci
January 1993,
Progress in clinical and biological research,
