Letters to the editor
Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes
| The first 150 words of the full text of this article appear below. |
EDITOR
The clinical findings associated with 7p
duplication have been well delineated. They comprise large fontanelles
and sutures, hypertelorism, large, apparently low set ears, high arched palate, hip joint dislocation or contractures, a high frequency of
cardiac septal defect, and mental retardation.1-5 It
usually results from malsegregation of a parental balanced
translocation or through abnormal recombination caused by a parental
inversion. Some cases, however, result from a partial de novo 7p
duplication.6-15 Because these cases represent pure 7p
segmental imbalances, they are of great interest in phenotype-genotype
correlation studies.
Here we present a case of pure 7p duplication resulting from an
unbalanced inverted insertion of segment 7p13-p21.2 into the short arm
of a chromosome 8. A comparative analysis of our case with those
published previously suggests that the 7p21.1-p21.2 region might
contain a critical region for the 7p duplication syndrome. Moreover,
the presence in our patient of some opposite features
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