Significats de partial trisomy en anglès

The clinical phenotype of both cases is compatible with the partial trisomy 9p syndrome.

Pure partial trisomy of chromosome 21 is a rare event.

This observation adds new information relevant to cat eye syndrome and partial trisomy of 22q.

Such DNA studies will be necessary to define the genotype-phenotype relation in partial trisomy 9p syndrome.

Conversely, in eight cases with a normal phenotype, proximal euchromatic material was detected as partial trisomy.

The present study evaluated genotype-phenotype correlations of 26 cases diagnosed with 1q partial trisomy syndrome.

As far as we know, this is the first study of a patient with partial trisomy 9p described with oropharyngeal dysphagia.

Clinical features observed in the proband were consistent with the consensus phenotype of partial trisomy 7q22 → qter reported in the scientific literature.

This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the Dup3q phenotype and severe eye and cerebellar malformations.

Partial trisomy 9p is a frequently described chromosome abnormality.

Partial trisomy for 18q23 has not been previously reported.