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Biomedical subjects

O Zuffardi

Publications and source records attributed to O Zuffardi.

At least 127 records · Page 7Linked to original sources
PubMed1977

15/15 translocation in Prader-Willi syndrome.

Two further cases (one previously published as D/D translocation) of 15/15 translocation in Prader-Willi syndrome are reported, which brings the total cases of this specific chromosomal anomaly in connection with this specific syndrome up to three or possibly four. It is suggested that Prader-Willi syndrome might be caused by loss of short arm material of chromosome 15.

Child↗
PubMed1977

Reduced phenotypic effect on partial trisomy 1q in a X/1 translocation.

A girl with psychomotor retardation and minor physical abnormalities, had an unbalanced X/1 translocation resulting in a partial trisomy 1q and partial monosomy for Xp. The four cases of partial trisomy for the distal segment of 1q reported in the literature showed a much more severely affected phenotype. In the present case the translocated X/1 chromosome is preferentially late replicating and there is spreading of late replication to the translocated 1q segment only in a minor proportion of the cells. The possibility of a non univocous correspondence between spreading of genetic inactivation and cytological spreading of late replication is discussed.

Child↗
PubMed1976

"Jumping" satellites in three generations: a warning for paternity tests and prenatal diagnosis.

Prominent intensely fluorescent satellites on one chromosome 22 seem to have been transferred, during gametogenesis of a male carrier of a balanced 10/22 translocation, from the normal 22 to the translocated 22 in his daughter and son, both carriers of the translocation. Prenatal diagnosis was performed in the carrier daughter and in the chromosomally normal female foetus the satellites have jumped back to one normal chromosome 22. The phenomenon is probably due to exchanges between the short arms of chromosome 22 at meiotic pairing in the father and in his daughter. These observations give a warning for caution in the use of marker variants for paternity tests and prenatal diagnosis.

Amniocentesis↗
PubMed1976

The syndrome of partial trisomy 14q.

The case of a 4-month-old male with de novo partial trisomy for chromosome 14 involving the p13 leads to q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral microphtalmia, high arched palate, and anomalies of hands and feet. These symptoms are found also in the other 8 cases of partial trisomy 14 reported in the literature. This confirms a characteristic chromosomal syndrome although the breaking points on the extra chromosome 14 are not the same in the 9 cases. The clinical picture of our case calls for careful investigations of the chronology of bone age and of the immunologic situation in further cases of total and partial trisomy 14.

Abnormalities, Multiple↗
PubMed1976

Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm.

A deletion of the Y chromosome at the distal portion of band q11 was found in 6 men with normal male habitus but with azoospermia. Five of them were found during a survey of 1170 subfertile males while the sixth was karyotyped because of slight bone abnormalities. These findings, together with a review of the literature, suggest that on the distal portion of the nonfluoresecent segment of the long arm of the Y, factors are located controlling spermatogenesis.

Adult↗