De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration.
We report on a case of de novo direct duplication for the distal part of chromosome 3p: 46,XY,dir dup (3) (p25-->pter). At the age of 4 years and 7 months, the boy presented with moderate growth and mental retardation, muscular hypotonia, hypoplasia of the left kidney, a short neck, and a square-shaped face characterized by a broad and flat nasal bridge, slight epicanthus, and full cheeks. So far, only a few cases with such a small distal 3p duplication have been described, and none of them has a de novo direct duplication for this region. In our patient, dysmorphic signs are less impressive, and developmental delay is relatively moderate.
Kotzot
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Institute of Human Genetics, University of Erlangen-Nürnberg, Germany.
Krüger
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Braun-Quentin
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D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities; D008297:Male; D005810:Multigene Family; D009123:Muscle Hypotonia / Q000235:genetics; D010641:Phenotype; D014314:Trisomy