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Biomedical subjects

M Cammarata

Publications and source records attributed to M Cammarata.

42 records · Page 3Linked to original sources
PubMedDate not supplied

Genetic factors of recurrent abortions.

A review of main genetic factors involved in pathogenesis of recurrent abortion is presented. The prevalence of chromosomal abnormalities in spontaneous abortions and the role of parental abnormalities of karyotype is pointed out, also in relation to many recent studies. The result of 354 karyotypes performed on couples with spontaneous abortion are presented; the prevalence of chromosomal abnormalities resulted 4.2%, with 73% of translocations, either reciprocal (40%) or robertsonian (33%), and 27% of inversions. The low number of minor abnormalities (0.8%) seems to confirm their poor clinical significance.

Abortion, Habitual↗
PubMedDate not supplied

[Ring chromosome 4 in twins].

A case of ring chromosome 4 in an eleven months old male child with severe mental retardation, microcephaly and craniofacial anomalies is described. The karyotype was: 46,XY, r(4) p16----q35). The patient shows only few elements of the Wolf syndrome, whose phenotype is observed in most of the other cases with analogue karyotype.

Abnormalities, Multiple↗
PubMedDate not supplied

[48,XXYY syndrome in a 4-year-old subject].

The authors present a four years old boy with genitalic infantilism, mild mental retardation and karyotype 48, XXYY. This rare gonosomic aneuploidy is exceptionally discovered during childhood because it is diagnosed in most of cases after puberty for its phenotype similar to the Klinefelter's Syndrome.

Child, Preschool↗