| Full text | |
| Author(s): |
Christofolini, Denise M.
[1]
;
Piazzon, Flavia B.
[2]
;
Evo, Carolina
[1]
;
Mafra, Fernanda A.
[1]
;
Cosenza, Stella R.
[1]
;
Dias, Alexandre T.
[2]
;
Barbosa, Caio P.
[1]
;
Bianco, Bianca
[1]
;
Kulikowski, Leslie D.
[2]
Total Authors: 9
|
| Affiliation: | [1] FMABC, Div Genet, Dept Gynecol & Obstet, Sao Paulo - Brazil
[2] Univ Sao Paulo, HC FMUSP, Cytogenom Lab, Dept Pathol, BR-05403000 Sao Paulo - Brazil
Total Affiliations: 2
|
| Document type: | Journal article |
| Source: | MOLECULAR CYTOGENETICS; v. 7, APR 24 2014. |
| Web of Science Citations: | 2 |
| Abstract | |
Background: Complex small supernumerary marker chromosomes (sSMCs) consist of chromosomal material derived from more than one chromosome and have been implicated in reproductive problems such as recurrent pregnancy loss. They may also be associated with congenital abnormalities in the offspring of carriers. Due to its genomic architecture, chromosome 15 is frequently associated with rearrangements and the formation of sSMCs. Recently, several different CNVs have been described at 16p11.2, suggesting that this region is prone to rearrangements. Results: We detected the concomitant occurrence of partial trisomy 15q and 16p, due to a complex sSMC, in a 6-year-old girl with clinical phenotypic. The karyotype was analyzed by G and C banding, NOR staining, FISH and SNP array and defined as 47,XX,+der(15)t(15;16)(q13;p13.2)mat. The array assay revealed an unexpected complex sSMC containing material from chromosomes 15 and 16, due to an inherited maternal translocation (passed along over several generations). The patient's phenotype included microsomia, intellectual disability, speech delay, hearing impairment, dysphagia and other minor alterations. Discussion: This is the first report on the concomitant occurrence of partial trisomy 15q and 16p. The wide range of phenotypes associated with complex sSMCs represents a challenge for genotype-phenotype correlation studies, accurate clinical assessment of patients and genetic counseling. (AU) | |
| FAPESP's process: | 09/53105-9 - Application of molecular cytogenetic in the diagnosis of patients with congenital anomalies for the reduction of infant mortality |
| Grantee: | Leslie Domenici Kulikowski |
| Support Opportunities: | Research Grants - Research in Public Policies for the National Health Care System (PP-SUS) |