We describe a 7-year-old boy with a complex rearrangement involving the whole short arm of chromosome 9 defined by means of molecular cytogenetic techniques. The rearrangement is characterized by a 18.3Mb terminal deletion associated with the inverted duplication of the adjacent 21,5Mb region. The patient shows developmental delay, psychomotor retardation, hypotonia. Other typical features of 9p deletion (genital disorders, midface hypoplasia, long philtrum) and of the 9p duplication (brachycephaly, down slanting palpebral fissures and bulbous nasal tip) are present. Interestingly, he does not show trigonocephaly that is the most prominent dysmorphism associated with the deletion of the short arm of chromosome 9. Patient's phenotype and the underlying flanking opposite 9p imbalances are compared with that of reported patients and the proposed critical regions for 9p deletion and 9p duplication syndromes.

Complex rearrangement involving 9p deletion and duplication in a syndromic patient : Genotype/phenotype correlation and review of the literature / M.P. Recalcati, M. Bellini, L. Norsa, L. Ballarati, R. Caselli, S. Russo, L. Larizza, D. Giardino. - In: GENE. - ISSN 0378-1119. - 502:1(2012 Jul 01), pp. 40-45.

Complex rearrangement involving 9p deletion and duplication in a syndromic patient : Genotype/phenotype correlation and review of the literature

M.P. Recalcati;M. Bellini;L. Norsa;L. Larizza;
2012-07-01

Abstract

We describe a 7-year-old boy with a complex rearrangement involving the whole short arm of chromosome 9 defined by means of molecular cytogenetic techniques. The rearrangement is characterized by a 18.3Mb terminal deletion associated with the inverted duplication of the adjacent 21,5Mb region. The patient shows developmental delay, psychomotor retardation, hypotonia. Other typical features of 9p deletion (genital disorders, midface hypoplasia, long philtrum) and of the 9p duplication (brachycephaly, down slanting palpebral fissures and bulbous nasal tip) are present. Interestingly, he does not show trigonocephaly that is the most prominent dysmorphism associated with the deletion of the short arm of chromosome 9. Patient's phenotype and the underlying flanking opposite 9p imbalances are compared with that of reported patients and the proposed critical regions for 9p deletion and 9p duplication syndromes.
Chromosome 9p complex rearrangement ; Array-CGH ; FISH ; 9p deletion syndrome ; 9p duplication syndrome ; Phenotype–genotype correlation
Settore MED/03 - Genetica Medica
Settore MED/38 - Pediatria Generale e Specialistica
GENE
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/174153
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