Article
Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35-->qter: molecular cytogenetic analysis and clinical phenotype in two generations.
American journal of medical genetics - 28 Aug 2000
Speleman F, Callens B, Logghe K, Van Roy N, Horsley S W, Jauch A, Verschraegen-Spae M R, Leroy J G
Abstract excerpt
Few patients with trisomy of the most distal region of chromosome 7q have been described. We report on a familial translocation t(2;7)(q37;q35) leading to trisomy 7q35-->7qter in a child and her paternal uncle and a minimal deletion of distal 2q as demonstrated by FISH with probes located in the chromosome 2q subtelomeric region. The clinical phenotype included macrocephaly and low-set ears, also found in other...
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