Trichorhinophalangeal syndrome (TRPS) is a malformation syndrome, characterized by craniofacial and skeletal abnormalities with high penetrance and variable expressivity, inherited in an autosomal dominant manner. Although there is a great variability in the clinical findings with considerable overlap, even among subjects of the same family, 3 subgroups can be distinguished: TRPS I (Online Mendelian Inheritance in Man [OMIM] #190350), TRPS II (OMIM #150230), and TRPS III (OMIM #190351) (Table I). TRPS I is associated with cytogenetically detectable alterations of chromosome 8 band q24.1, including deletions, insertions, or translocations; TRPS II is considered a contiguous gene syndrome, caused by a larger deletion, involving at least the genes for TRPS I and that of hereditary multiple exostoses (8q24.11-q24.13). No cytogenetically abnormalities have been shown in TRPS III; however, the overlapping features of TRPS I and TRPS III suggest a common molecular genetic basis (TRPS III results from missense mutations in exon 6 of TRPS I).
Trichorhinophalangeal syndrome
VACCARO, Mario;GUARNERI, Claudio;BLANDINO, Alfredo
2005-01-01
Abstract
Trichorhinophalangeal syndrome (TRPS) is a malformation syndrome, characterized by craniofacial and skeletal abnormalities with high penetrance and variable expressivity, inherited in an autosomal dominant manner. Although there is a great variability in the clinical findings with considerable overlap, even among subjects of the same family, 3 subgroups can be distinguished: TRPS I (Online Mendelian Inheritance in Man [OMIM] #190350), TRPS II (OMIM #150230), and TRPS III (OMIM #190351) (Table I). TRPS I is associated with cytogenetically detectable alterations of chromosome 8 band q24.1, including deletions, insertions, or translocations; TRPS II is considered a contiguous gene syndrome, caused by a larger deletion, involving at least the genes for TRPS I and that of hereditary multiple exostoses (8q24.11-q24.13). No cytogenetically abnormalities have been shown in TRPS III; however, the overlapping features of TRPS I and TRPS III suggest a common molecular genetic basis (TRPS III results from missense mutations in exon 6 of TRPS I).Pubblicazioni consigliate
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