Duplication 9p and their implication to phenotype

Author(s)

Guilherme, Roberta Santos ^[1] ; Meloni, Vera Ayres ^[1] ; Alvarez Perez, Ana Beatriz ^[1] ; Pilla, Ana Luiza ^[1] ; Paula de Ramos, Marco Antonio ^[1] ; Dantas, Anelisa Gollo ^[1] ; Takero, Sylvia Satomi ^[1] ; Kulikowski, Leslie Domenici ^[2] ; Melaragno, Maria Isabel ^[1]

Affiliation

^[1] Univ Fed Sao Paulo, Dept Morphol & Genet, BR-04023900 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Dept Pathol, Lab Citogen, BR-05403000 Sao Paulo - Brazil

• Document type: Journal article
• Source: BMC MEDICAL GENETICS; v. 15, DEC 20 2014.
• Web of Science Citations: 10

Abstract

Background: Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete 9p duplication, three of them involving 9p centromere alterations. Methods: The rearrangements in the patients were characterized by G-banding, SNP-array and fluorescent in situ hybridization (FISH) with different probes. Results: Two patients presented de novo dicentric chromosomes: der(9; 15)t(9; 15)(p11.2;p13) and der(9; 21)t(9; 21) (p13.1;p13.1). One patient presented two concomitant rearranged chromosomes: a der(12)t(9; 12)(q21.13;p13.33) and an psu i(9)(p10) which showed FISH centromeric signal smaller than in the normal chromosome 9. Besides the duplication 9p24.3p13.1, array revealed a 7.3 Mb deletion in 9q13q21.13 in this patient. The break in the psu i(9) (p10) probably occurred in the centromere resulting in a smaller centromere and with part of the 9q translocated to the distal 12p with the deletion 9q occurring during this rearrangement. Two patients, brother and sister, present 9p duplication concomitant to 18p deletion due to an inherited der(18)t(9; 18)(p11.2; p11.31) mat. Conclusions: The patients with trisomy 9p present a well-recognizable phenotype due to facial appearance, although the genotype-phenotype correlation can be difficult due to concomitant partial monosomy of other chromosomes. The chromosome 9 is rich in segmental duplication, especially in pericentromeric region, with high degree of sequence identity to sequences in 15p, 18p and 21p, chromosomes involved in our rearrangements. Thus, we suggest that chromosome 9 is prone to illegitimate recombination, either intrachromosomal or interchromosomal, which predisposes it to rearrangements, frequently involving pericentromeric regions. (AU)

• FAPESP's process: 12/51150-0 - Investigation of the mechanisms involved in the formation and stabilization of ring chromosome, supemumerary markers and terminal deletions
• Grantee: Maria Isabel de Souza Aranha Melaragno
• Support Opportunities: Regular Research Grants
• FAPESP's process: 12/15572-7 - Investigation of the mechanisms involved in the formation and stabilization of ring chromosome, supernumerary markers and terminal deletion.
• Grantee: Roberta dos Santos Guilherme
• Support Opportunities: Scholarships in Brazil - Doctorate