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EnglishWe performed chromosome microdissection in order to define the "de novo" rearrangement observed in a female patient affected by: frontal microgyria, mild psychomotor retardation, thoracic scoliosis, XIIth rib asymmetry and facial dysmorphisms. Through the use of the micro-FISH we evidenced a deletion of the 3p25pter region and a 4p16.1 duplication. We performed a karyotype-phenotype correlation in our patient and in the ones previously reported in literature which had a 3p25pter deletion or the 4p16 duplication.
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| Titolo: | Detection of a 46,XX,del(3)(p25pter),dup(4)(p16.1pter) by using chromosome microdissection |
| Autori: | |
| Data di pubblicazione: | 1998 |
| Rivista: | |
| Citazione: | Detection of a 46,XX,del(3)(p25pter),dup(4)(p16.1pter) by using chromosome microdissection / Grammatico, Paola; Roccella, M; DE BERNARDO, C; Roccella, F; Grammatico, B; Rinaldi, R; DEL PORTO, Giuseppe. - In: GENETIC COUNSELING. - ISSN 1015-8146. - STAMPA. - 9(4)(1998), pp. 259-264. |
| Abstract: | We performed chromosome microdissection in order to define the "de novo" rearrangement observed in a female patient affected by: frontal microgyria, mild psychomotor retardation, thoracic scoliosis, XIIth rib asymmetry and facial dysmorphisms. Through the use of the micro-FISH we evidenced a deletion of the 3p25pter region and a 4p16.1 duplication. We performed a karyotype-phenotype correlation in our patient and in the ones previously reported in literature which had a 3p25pter deletion or the 4p16 duplication. |
| Handle: | http://hdl.handle.net/11573/245894 |
| Appare nella tipologia: | 01a Articolo in rivista |
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