Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28.
We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28-q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 3:2 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25-3q28.
van Essen
A J
AJ
Department of Medical Genetics, University of Groningen, The Netherlands.
Kok
K
K
van den Berg
A
A
de Jong
B
B
Stellink
F
F
Bos
A F
AF
Scheffer
H
H
Buys
C H
CH
D015139:Blotting, Southern; D007446:Chromosome Inversion; D002893:Chromosomes, Human, Pair 3; D003720:Densitometry; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D014314:Trisomy
D005819:Genetic Markers