A partial a trisomy syndrome is reported in a boy born to as father heterozygous for a translocation t(10:14) (p15.2;q21). The patient displays some clinical features that are grossly superimpossible to those found in previously reported cases. The presence of quite non-specific dysmorphic signs underlines the possibility to identify trisomy 14q- syndrome on clinical grounds alone. Furthermore, a more detailed characterization of this syndrome must consider both the differences of the umbalanced 14q region and, mostly, the patient's age. In fact, an 8 year follow up in our case has shown the disappearence or modification of some clinical features noted at birth, and the prevelance of the some familial physical traits later in infancy.
|Translated title of the contribution||Partial tertiary trisomy 14 pter →q21 resulting from familial translocation t(10;14) (p15.2;q21)|
|Number of pages||5|
|Journal||Acta Medica Auxologica|
|Publication status||Published - 1979|
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