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Trisomy 10p is a rare chromosomal syndrome, characterized by craniofacial abnormalities, malformations of organs and skeleton, and impaired psychomotor development. In most of the cases partial trisomy 10p results of a balanced translocation or inversion, the mother being carrier of the structural abnormality. Only eight of 63 patients with trisomy 10p found in a literature survey present a de novo trisomy. 17 cases show a pure trisomy 10p without an associated deficiency of any other chromosome segment. We report a female patient with an interchromosomal de novo duplication 10p11.2-->15, demonstrating typical clinical signs like craniofacial abnormalities, oral cleft, club foot, seizures, and a severe delay of psychomotor development.
B Fechtrup, and
H Kalhoff, and
L Diekmann, and
B Fritz
July 1983,
Neuropsychiatrie de l'enfance et de l'adolescence,
B Fechtrup, and
H Kalhoff, and
L Diekmann, and
B Fritz
November 2001,
American journal of medical genetics,
B Fechtrup, and
H Kalhoff, and
L Diekmann, and
B Fritz
January 1979,
Human genetics,
B Fechtrup, and
H Kalhoff, and
L Diekmann, and
B Fritz
August 2005,
American journal of medical genetics. Part A,
B Fechtrup, and
H Kalhoff, and
L Diekmann, and
B Fritz
April 2005,
American journal of medical genetics. Part A,
B Fechtrup, and
H Kalhoff, and
L Diekmann, and
B Fritz
July 1990,
American journal of medical genetics,
B Fechtrup, and
H Kalhoff, and
L Diekmann, and
B Fritz
January 2003,
Clinical genetics,
B Fechtrup, and
H Kalhoff, and
L Diekmann, and
B Fritz
January 2023,
SAGE open medical case reports,
B Fechtrup, and
H Kalhoff, and
L Diekmann, and
B Fritz
April 1975,
Clinical genetics,
B Fechtrup, and
H Kalhoff, and
L Diekmann, and
B Fritz
November 1996,
Clinical genetics,
