First described in 1971, partial trisomy 6p is uncommon and generally secondary to a familial reciprocal translocation. The proximal breakpoint of the reported cases varies from p11 to p25. We here report on a patient with moderate mental retardation, craniofacial and pigmentary anomalies, proteinuria, and hyperglycemia who was found to have a mosaic karyotype 46,X,add(Y)(q12)/45,X. Fluorescence in situ hybridization (FISH) enabled us to identify that the additional material on Yqh derived from 6p and to define the rearrangement as der(Y)t(Y;6)(q12;p22). To the best of our knowledge, this is the first case of trisomy 6p22-pter without an associated deleted segment; the second breakpoint of the rearrangement is in Yqh. Precise mapping of the centromeric breakpoint of the trisomic 6p segment allowed a more convincing correlation between partial 6p trisomy and clinical phenotype to be addressed. In particular, the proteinuria often observed in 6p trisomic patients could be assigned to the 6p22-6pter region.
Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation / D. Giardino, P. Finelli, D. Caufin, G. Gottardi, R. Lo Vasco, L. Turolla, L. Larizza. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - 108:1(2002 Feb 15), pp. 36-40.
|Titolo:||Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation|
FINELLI, PALMA (Secondo)
LARIZZA, LIDIA (Ultimo)
|Parole Chiave:||Breakpoint FISH mapping; Congenital anomalies; Der(Y); Partial trisomy 6p; Proteinuria|
|Settore Scientifico Disciplinare:||Settore MED/03 - Genetica Medica|
|Data di pubblicazione:||15-feb-2002|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1002/ajmg.10225|
|Appare nelle tipologie:||01 - Articolo su periodico|