CH026. 2ª REUNIÃO BRASILEIRA DE CITOGENÉTICA. 28 a 30 de agosto 2011
• Águas de Lindóia • SP. Phenotype karyotype correlation in a patient with ...
2ª REUNIÃO BRASILEIRA DE CITOGENÉTICA 28 a 30 de agosto 2011 • Águas de Lindóia • SP
Phenotype karyotype correlation in a patient with interstitial deletion 11q Grangeiro, CHP1, Picanço, CG1; Moreira, MLC1; Huber, J1; Pereira,CS2; Baratela, WAR1; Laureano, LAF1; Akamine, RT1; Ramos, ES1,2; Martelli, L1,2 Medical Genetics Division, University Hospital Ribeirao Preto, SP, Brazil;
1
Department of Genetics, University of São Paulo, School of Medicine of Ribeirao Preto, SP, Brazil
2
[email protected]
Keywords: chromosome aberration, deletion 11q, karyotype, phenotype; chromosome 11
The phenotype of patients with chromosomal aberrations are in general highly variable, but of particular interest are the chromosomal deletions that can be associated with subtle phenotypes and minimal clinical findings. Indeed some patients with an interstitial deletion of cytoband 5p14, 11p12, 13q21 and 16q21 have been reported to have a normal phenotype. Deletions of the long arm of chromosome 11 are widely described in the literature, especially 11q terminal deletion disorder or Jacobsen syndrome: a contiguous gene disorder characterized by psychomotor retardation, cardiac defects, thrombocytopenia and craniofacial anomalies. In contrast, there have been less frequent reports of chromosomal imbalances in the proximal regions of the long arm of chromosome 11. A definitive phenotype/karyotype correlation has yet to be established for interstitial 11q deletions. One reason for difficulties in studying aberrations of this region of 11q may be that intrachomosomal aberrations cannot be defined with certainty because of the symmetric configuration of G-bands. In this study we report a 2 years old girl, referred to the Genetics Division (HCFMRP-USP) for diagnostic assessment. The physical examination revealed dolicocephaly, bitemporal narrowing, prominent central forehead, parietal hemangioma, anteverted nostrils, malformed auricles, hypodontia, premature aged face and congenital cardiopathy. Normal psychomotor development. Brain MRI showed ventricular asymmetry compatible with cortical atrophy on the left hemisphere. Chromosome analysis was performed on cultured peripheral blood lymphocytes from the patient and his parents by high resolution GTG banding. The karyotype was 46,XX,del11(q14q21) confirmed by M-FISH. Parental karyotype were normal. The cytogenetic evaluation led to the identification of the etiologic diagnosis. The carriers of deletions envolving 11q14-q23 region present nonspecific phenotypes and the genotype-phenotype correlation can be established using a combination of G-banding and high resolution array comparative genome hybridization.
CH026
