A patient with a de novo t (6;9) and an interstitial duplication of (9)(q21.2q22.1).
We report on a 4-year-old child with psychomotor retardation, general hypotonia and only mild dysmorphic features. Her chromosome constitution was 46,XX, t (6;9) (q27;q22.1), dup (9) (q21.2q22.1). This de novo interstitial duplication was confirmed using fluorescence in situ hybridisation (FISH) with band-specific probes. This is the second report of a patient with an interstitial duplication of this region of the long arm of chromosome 9. It is concluded that in a child with an abnormal phenotype and a de novo (apparently) balanced translocation, the possibility of a small duplication or deletion should be considered.
Mohrschladt
M F
MF
Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, The Netherlands.
Bijlsma
E K
EK
Sluijter
S
S
De Coo
R F
RF
Hoovers
J M
JM
Leschot
N J
NJ
D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6; D002899:Chromosomes, Human, Pair 9; D005145:Face / Q000002:abnormalities*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011596:Psychomotor Disorders / Q000235:genetics*; D014178:Translocation, Genetic