[Trisomy of the short arm of chromosome 10p; description of a female patient with de novo duplication 10p11.2-15].
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.
Fechtrup
B
B
Kinderklinik, Städtische Kliniken Dortmund.
Kalhoff
H
H
Diekmann
L
L
Fritz
B
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D015723:Gene Library; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D012640:Seizures / Q000235:genetics; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*
D015342:DNA Probes