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Biomedical subjects

M Fraccaro

Publications and source records attributed to M Fraccaro.

11 recordsLinked to original sources
PubMed1979

Transposition of 9q34 and 22 (q11toqter) regions has a specific role in chronic myelocytic leukemia.

Six cases are reported of variant Ph' translocations found among 240 patients with Ph'-positive CML. Five cases had a three-chromosome rearrangement involving, in addition to chromosomes 9 and 22, chromosomes 7, 4, 2(two), and 3, respectively, and one case had a two-chromosome rearrangement 22/5. A review of the literature revealed that three- and two-chromosome variant Ph' translocations are observed with equal frequency. It is postulated that all variant translocations are indeed three-chromosome rearrangements, that the specific event for the formation of the Ph' chromosome is the reciprocal translocation 9/22, and that the transposition of regions 9q34 and 22 (q11toqter), plays a major role in the development of CML.

Adult↗
PubMed1979

Familial XX true hermaphroditism and the H-Y antigen.

Two 46,XX sibs, one of female, one of male gender, and both with ambiguous external genitalia and ovotestis, were H-Y positive. The mother was H-Y negative. It is assumed that the underlying mutation was transmitted by the father, resulting in an autosomal dominant mode of inheritance. The common origin and the nature of the mutation leading to XX sex reversal are discussed.

Adolescent↗
PubMed1979

A homozygote for a serum albumin variant of the fast type.

A healthy, 10-year-old male born in Milano to a family from Southern Italy (Puglia) was found to be a homozygote for an albumin variant of the fast type. His parents are half-first cousins. Their common grandfather, the parents, one sister, and three brothers of the child were all heterozygotes for the same albumin variant. This seems to be the first case of a homozygote for a fast albumin variant described in Europe.

Alleles↗
PubMed1978

The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect.

Gene dosage effect for the enzyme peptidase A was studied in the red cells of subjects trisomic (seven cases) or monosomic (five cases) for the segment of chromosome 18 carrying the gene. The individual levels of enzyme activity in both groups were differen from those of the controls, but with a wide overlap. The use of the ratio of the activity of each subject to the midparent activity eliminated the overlapping. The mean ratio was 0.94 for the controls, 2.36 for the trisomics, and 0.41 for the monosomics. The trisomic ratio is higher than expected on the assumption of a linear effect. Correlation with the cytogenetic data in four cases of ring 18 and one of 18q- firmly places the gene for peptidase A on band 18q23.

Aneuploidy↗
PubMed1978

BSu restriction of DNA from cases exhibiting sex-chromosome abnormalities.

The restriction endonuclease BSu, an isoschizomer of the enzyme HaeIII, cleaves human DNA to yield classes of fragments that are characteristic of the DNA of individuals having a Y chromosome. The fragments concerned are therefore diagnostic of the presence of Y-chromosome DNA and have been studied here with the intention of confirming the origin of various translocations thought, on other grounds, to involve the Y. The absence of the fragments from DNA of a case exhibiting absence of the fluorecent region of Yq suggests that the DNA concerned maps predominantly to Yq. Normal gender in the absence of the BSu fragments indicates that they do not function in sex determination.

Adult↗
PubMed1977

Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.

A woman balanced carrier of a X/15 translocation gave birth to a balanced infertile son and three unbalanced Xp--fertile daughters. This family and the other eleven cases of Xp--fertile women found in the literature demonstrate that loss of the p21 leads to pter region of the X chromosome is compatible with fertility, probably because it leaves on Xp the region which is never inactivated.

Adult↗
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

X chromosomes attached by their long arm: replication autonomy of the short arm adjacent to the inactive centromere.

A 16 years old girl with Turner syndrome was found to have a 45,X/46,X,t(XqXq)?(q27q23) constitution. The two X chromosomes are attached by their long arms with loss of chromosome material and have one active and one inactive centromere. Analysis of replication patterns with autoradiography and BrdU treatment showed that the abnormal X is always the late replicating one and that the short arm of the second X which is adjacent to the inactive centromere maintains a degree of replication autonomy from the rest of the long arm.

Adolescent↗
PubMed1975

Homologous bands on the long arms of the X and Y chromosomes of Anopheles atroparvus.

The long arms of the X and Y chromosomes of the mosquito Anopheles atroparvus (2n equals 6) are equal in length, synchronous in their late DNA replication and have homologous G AND Q bands. This indicates that differentiation of the two sex chromosomes was the consequence of a single deletion of an autosome to give the Y chromosome, not followed by the acquisition of differential heterochromatic blocks.

Animals↗