Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.
We describe a patient with double trisomy 9q34.1-->qter and 21pter-->q22.1 resulting from 3:1 segregation of a maternal balanced translocation. The patient shows a clinical syndrome similar to that observed in patients with duplication of the chromosome 9q distal region, while no signs of trisomy 21 were observed. The use of high resolution banding and FISH were of fundamental importance for the cytogenetic diagnosis and for definition of the breakpoints on both chromosomes 9 and 21.
Mattina
T
T
Scuola di Specializzazione in Genetica Medica, Clinica Pediatrica I, Catania, Italy.
Pierluigi
M
M
Mazzone
D
D
Scardilli
S
S
Perfumo
C
C
Mollica
F
F
D000015:Abnormalities, Multiple / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy