Detection of a 46,XX,der(3)t(3;4)(p25;p16.1) by using chromosome microdissection.
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.
Grammatico
P
P
Cattedra di Genetica Medica, Università La Sapienza, Roma, Italia.
Roccella
M
M
De Bernardo
C
C
Roccella
F
F
Grammatico
B
B
Rinaldi
R
R
Del Porto
G
G
D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D010641:Phenotype; D020161:Physical Chromosome Mapping; D013577:Syndrome