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The authors report on a case of trisomy 9 mosaicism syndrome, a rare chromosome abnormality. The common features of this syndrome are growth and mental retardation, low-set malformed ears, wide sutures and fontanelles, bulbous nose, short palpebral fissures, micrognathia, microphthalmia and enophthalmos, abnormal hands and feet, hip dislocation, joint limitation, cardiovascular defects and urogenital abnormalities. Our patient presented some unusual characteristics, such as 13 pairs of ribs, a vertebral malformation, a hemivertebra and a Dandy-Walker syndrome. They compare their clinical findings with the few cases previously described and they try to contribute to the further clinical definition of the syndrome. It is possible that there is a correlation between the variability of the phenotype and the percentage of trisomic cells in the patient.
L Tarani, and
F Colloridi, and
G Raguso, and
A Rizzuti, and
L Bruni, and
M C Tozzi, and
D Palermo, and
A Panero, and
P Vignetti
February 2004,
Journal of perinatology : official journal of the California Perinatal Association,
L Tarani, and
F Colloridi, and
G Raguso, and
A Rizzuti, and
L Bruni, and
M C Tozzi, and
D Palermo, and
A Panero, and
P Vignetti
October 2007,
American journal of medical genetics. Part A,
L Tarani, and
F Colloridi, and
G Raguso, and
A Rizzuti, and
L Bruni, and
M C Tozzi, and
D Palermo, and
A Panero, and
P Vignetti
May 2016,
Iranian journal of medical sciences,
L Tarani, and
F Colloridi, and
G Raguso, and
A Rizzuti, and
L Bruni, and
M C Tozzi, and
D Palermo, and
A Panero, and
P Vignetti
December 2013,
Journal of pediatric genetics,
L Tarani, and
F Colloridi, and
G Raguso, and
A Rizzuti, and
L Bruni, and
M C Tozzi, and
D Palermo, and
A Panero, and
P Vignetti
January 2023,
Frontiers in genetics,
L Tarani, and
F Colloridi, and
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A Rizzuti, and
L Bruni, and
M C Tozzi, and
D Palermo, and
A Panero, and
P Vignetti
April 1995,
American journal of medical genetics,
L Tarani, and
F Colloridi, and
G Raguso, and
A Rizzuti, and
L Bruni, and
M C Tozzi, and
D Palermo, and
A Panero, and
P Vignetti
January 1979,
American journal of medical genetics,
L Tarani, and
F Colloridi, and
G Raguso, and
A Rizzuti, and
L Bruni, and
M C Tozzi, and
D Palermo, and
A Panero, and
P Vignetti
February 1998,
American journal of medical genetics,
L Tarani, and
F Colloridi, and
G Raguso, and
A Rizzuti, and
L Bruni, and
M C Tozzi, and
D Palermo, and
A Panero, and
P Vignetti
January 1981,
Acta paediatrica Scandinavica,
L Tarani, and
F Colloridi, and
G Raguso, and
A Rizzuti, and
L Bruni, and
M C Tozzi, and
D Palermo, and
A Panero, and
P Vignetti
April 1989,
Clinical genetics,
