Trisomy 9p. Report of two new cases

Trisomy 9p is a chromosome abnormality caused by duplication of the short arm of chromosome 9. Clinically it is characterized by psychomotor retardation, malformations that can affect various organs and sometimes epilepsy. Trisomy 9p may be the fourth most common autosomal trisomy, after trisomies 2...

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Bibliographic Details
Published in:Anales de pediatría (Barcelona, Spain : 2003) Spain : 2003), 2004-10, Vol.61 (4), p.336-339
Main Authors: San Román Muñoz, M, Herranz Fernández, J L, Tejerina Puente, A, Arteaga Manjón-Cabeza, R, López Grondona, F
Format: Article
Language:Spanish
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Abnormalities, Multiple - therapy
Chromosomes, Human, Pair 9 - genetics
Female
Humans
Infant
Karyotyping
Male
Spain
Syndrome
Trisomy - diagnosis
Trisomy - genetics
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Summary:Trisomy 9p is a chromosome abnormality caused by duplication of the short arm of chromosome 9. Clinically it is characterized by psychomotor retardation, malformations that can affect various organs and sometimes epilepsy. Trisomy 9p may be the fourth most common autosomal trisomy, after trisomies 21, 13 and 18. Two new cases of trisomy 9p are described. Previous cases reported in Spain, associated clinical features, and the diagnostic and therapeutic approach to these patients are revised.
ISSN:1695-4033