1.
J Med Genet
; 34(11): 945-8, 1997 Nov.
Article
in English
| MEDLINE
| ID: mdl-9391894
ABSTRACT
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.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 21 , Chromosomes, Human, Pair 9 , Trisomy , Female , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Pedigree , Translocation, Genetic
2.
Clin Genet
; 50(4): 277, 1996 Oct.
Article
in English
| MEDLINE
| ID: mdl-9001819
3.
Blood
; 87(11): 4915-6, 1996 Jun 01.
Article
in English
| MEDLINE
| ID: mdl-8639871