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.
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.
Detection of a 46,XX,del(3)(p25pter),dup(4)(p16.1pter) by using chromosome microdissection
GRAMMATICO, Paola;DEL PORTO, Giuseppe
1998
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
