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Biomedical subjects

B Noel

Publications and source records attributed to B Noel.

At least 37 records · Page 2Linked to original sources
PubMed1986

Characterization of the supernumerary chromosome in cat eye syndrome.

Most individuals with cat eye syndrome (CES) have a supernumerary bisatellited chromosome which, on the basis of cytogenetic evidence, has been reported to originate from either chromosome 13 or 22. To resolve this question, a single-copy DNA probe, D22S9, was isolated and localized to 22q11 by in situ hybridization to metaphase chromosomes. The number of copies of this sequence was determined in CES patients by means of Southern blots and densitometry analysis of autoradiographs. In patients with the supernumerary chromosome, four copies were found, whereas in one patient with a duplication of part of chromosome 22, there were three copies. Therefore, the syndrome results from the presence of either three or four copies of DNA sequences from 22q11; there is no evidence that sequences from other chromosomes are involved. This work demonstrates how DNA sequence dosage analysis can be used to study genetic disorders that are not readily amenable to standard cytogenetic analysis.

Abnormalities, Multiple↗
PubMed1986

A deletion map of the human Y chromosome based on DNA hybridization.

The genomes of 27 individuals (19 XX males, two XX hermaphrodites, and six persons with microscopically detectable anomalies of the Y chromosome) were analyzed by hybridization for the presence or absence of 23 Y-specific DNA restriction fragments. Y-specific DNA was detected in 12 of the XX males and in all six individuals with microscopic anomalies. The results are consistent with each of these individuals carrying a single contiguous portion of the Y chromosome; that is, the results suggest a deletion map of the Y chromosome, in which each of the 23 Y-specific restriction fragments tested can be assigned to one of seven intervals. We have established the polarity of this map with respect to the long and short arms of the Y chromosome. On the short arm, there is a large cluster of sequences homologous to the X chromosome. The testis determinant(s) map to one of the intervals on the short arm.

Chromosome Banding↗
PubMed1984

[Duplication of the long arm of chromosome 3 (dup 3q) in a newborn infant whose the father is carrier of pericentric inversion of chromosome 9].

The authors report a case of a partial trisomy for the long arm of chromosome 3. The associated morphotypic anomalies are compared with the 31 cases already reported, and allow to further outline a well recognizable morphotype which has similarities with the Brachmann Cornelia de Lange Syndrome. The chromosomal mechanisms which may result in this unbalanced caryotype dup 3 q are discussed, and among them the possible role of a paternal chromosome 9 pericentric inversion, most commonly termed as a normal variant.

Abnormalities, Multiple↗
PubMed1980

Serotoninergic dysfunction in the 47, XYY syndrome.

In six XYY patients suffering from aggressiveness and admitted by order of law into a security setting for acts of violence, the estimation of cerebrospinal fluid amine metabolites before and after a probenecid test revealed a clear decrease in the turnover of central serotonin (5-HT) while that of dopamine (DA) was unchanged. The treatment with the 5-HT precursor, L-5-hydroxytryptophan (L-5-HTP), in five of the XYYs resulted in a clinical status equivalent to that observed when the patients were previously treated by conventional neuroleptics.

5-Hydroxytryptophan↗
PubMed1976

Wolf's syndrome in twins -- translocation in the mother.

A case of MZ twins, both affected by Wolf's syndrome, is described. Their mother, of subnormal look and low intellectual level is translocated. The children, born with a weight and size much below the average, show a very special morphotype; a hook-nose, an an abnormal conformation of the back edge of the nostrils (a protrusion in the shape of a horn overhanging the filtrum), hypertelorism, microcephaly. Great asynchronism in the maturation of the bones and a somatoschisis of the body of the cervical vertebrae are noted. Deletion of the short arm chromosome 4 is juxtacentromeric. The study of blood and tissue groups corroborates monozygosity. Dermatoglyphs are little abnormal and identical in the two children. The mother's family is phenotypically normal. At 19 months of age, measuring is still below 4, psychomotor progress is extremely weak, and convulsions are frequent.

Abnormalities, Multiple↗
PubMed1976

Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

New techniques of human karyotyping have allowed us to define accurately the banding pattern of six new cases with partial duplication of deficiency of chromosome 13. It now seems possible to draw a rough map of chromosome 13, correlating observed malformations and phenotypic features with specific chromosome regions. Partial monosomy shows clinical features which are the antithesis of the corresponding trisomic phenotype (Lejeune 1966).

Abnormalities, Multiple↗