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De novo direct duplication 3 (p25→pter): a previously undescribed chromosomal aberration
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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.
Title: De novo direct duplication 3 (p25→pter): a previously undescribed chromosomal aberration
Description:
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.
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