Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant.
Am J Med Genet
; 91(3): 192-7, 2000 Mar 20.
Article
in En
| MEDLINE
| ID: mdl-10756341
ABSTRACT
We report on a 31-year-old mentally retarded woman with minor facial anomalies and a heteromorphic chromosome 9 with tandem duplication of the 9p11-q13 pericentromeric region. To the best of our knowledge, this is the first report of tandem duplication of this region. An identical chromosome 9 morphology was found in the healthy and phenotypically normal sister of the proposita. The usefulness of double-color FISH techniques and the presumed mechanism accounting for the origin of the chromosomal anomaly and for the phenotypic discordance observed between the two sisters are discussed.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 9
/
Centromere
/
Chromosome Aberrations
/
Gene Duplication
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
Am J Med Genet
Year:
2000
Document type:
Article
Affiliation country:
Belgium