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Biomedical subjects

E Bonioli

Publications and source records attributed to E Bonioli.

At least 55 records · Page 3Linked to original sources
PubMed1981

Karyotype-phenotype correlation in partial trisomy 13. Report of a case due to maternal translocation.

A partial trisomy 13q, originating from a maternal translocation, 46,XX,t(3;13) (p26;q22), occurred in a 3-month-old infant, affected by multiple congenital anomalies. A review of the previously reported cases of partial trisomy for the distal segment of the long arm of chromosome 13 is conclusive for the existence of a distinct clinical entity; however, it is difficult to assign particular malformations to specific chromosome bands.

Adult↗
PubMed1978

[Trisomy of chromosome No. 10 in mosaic (author's transl)].

A case of trisomy of chromosome No. 10 in mosaic is described in a boy who died at the age of 6 months. The frequency of pathological cells is less than 30% (28% from lymphocytes, 20% from fibroblasts); it is possible, anyway, to rule out the hypothesis of a cellular cloning in vitro, since the trisomy 10 was observed in two different cultures, terminated after 48 and 72 hours. The parents' karyotype was normal, except for a litte number (6%) of cells with trisomy 10 from cultured lymphocytes of the mother. The morphological features of the present case are compared with those of the boy described by Higurashi et al. in 1969 (mosaic of trisomy 10, with a higher frequency of pathological cells).

Abnormalities, Multiple↗