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Biomedical subjects

I Cross

Publications and source records attributed to I Cross.

13 recordsLinked to original sources
PubMed1993

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

The velo-cardio-facial syndrome (VCFS) and DiGeorge sequence (DGS) have many similar phenotypic characteristics, suggesting that in some cases they share a common cause. DGS is known to be associated with monosomy for a region of chromosome 22q11, and DNA probes have been shown to detect these deletions even in patients with apparently normal chromosomes. Twelve patients with VCFS were examined and monosomy for a region of 22q11 was found in all patients. The DNA probes used in this study could not distinguish the VCFS locus and the DGS locus, indicating that the genes involved in these haploinsufficiencies are closely linked, and may be identical. The phenotypic variation of expression in VCFS and DGS may indicate that patients without the full spectrum of VCFS abnormalities but with some manifestations of the disorder may also have 22q11 deletions.

Abnormalities, Multiple↗
PubMed1993

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

The conotruncal anomaly face syndrome was described in a Japanese publication in 1976 and comprises dysmorphic facial appearance and outflow tract defects of the heart. The authors subsequently noted similarities to Shprintzen syndrome and DiGeorge syndrome. Chromosome analysis in five cases did not show a deletion at high resolution, but fluorescent in situ hybridisation using probe DO832 showed a deletion within chromosome 22q11 in all cases.

Abnormalities, Multiple↗
PubMed1992

An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations.

We report familial adenomatous polyposis coli (FAPC) with epidermoid cysts, osteomata, and areas of congenital hypertrophy of the retinal pigment epithelium (CHRPEs) in a male patient and his maternal aunt, both of whom suffered a mild to moderate degree of mental handicap. Both had an interstitial deletion of the long arm of chromosome 5 (del(5)(q22q23.2)). Two other normal family members had the underlying direct insertion of chromosome 5(dir ins(5)(q31.3q22q23.2)). Molecular genetic and fluorescent hybridisation studies have shown that loci D5S37 and D5S98 are outside the deletion whereas loci detected by probes EF5.44 and YN5.48 are lost. As expected, the molecular analyses indicate loss of one allele at the MCC and APC loci. The APC gene is located within band 5q22. Familial direct insertions should be considered as a cause of recurrent microdeletion syndromes.

Adenomatous Polyposis Coli↗
PubMed1992

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

A 2 year old girl presented with developmental delay and subtle dysmorphic features suggestive of Wolf-Hirschhorn syndrome (WHS). High resolution chromosome analysis was normal in the child and both parents. Molecular analysis indicated that the child had not inherited a maternal allele of probes from 4p16, confirming the clinical diagnosis. Prenatal diagnosis in the next pregnancy showed that again the fetus had no maternal allele for probes mapping to 4p16. Fluorescent in situ hybridisation in the mother showed a submicroscopic translocation, t(4;10). A normal karyotype in a child with clinical features of WHS is an indication for further investigation.

Abnormalities, Multiple↗
PubMed1990

Alagille syndrome and deletion of 20p.

We add five cases of 20p deletion to the 10 cases already published. Four had craniofacial, vertebral, ocular, and cardiovascular features of Alagille syndrome, which adds weight to the assignment of this disorder to the short arm of chromosome 20. Included in our series is the first report of familial transmission of a 20p deletion.

Abnormalities, Multiple↗
PubMed1983

Preferences for scale structure in melodic sequences.

Most Western music is tonal; that is, pitch organization can largely be described in terms of scales or keys. A considerable amount of research has been conducted on the role played by scale in perceiving notes and melodies. The present article points out a potentially important distinction between scale structure (the set permitted pitch intervals between notes) and mode (the assignment of a special salience or centrality to particular notes within the scale structure). Four experiments are described that investigated the judgment of adult Western listeners for melodies that approximated to scale structure in differing degrees but that were random in other respects. We found that musicians and nonmusicians gave higher ratings of preference and adjudged musicality to melodies containing increased numbers of consecutive notes conforming to scale structure. A significant exception to this rule was the least scalar type of sequence, which received ratings as high as the fully scalar sequences. This exception occurred because subjects identified scale structure not only in groups of contiguous notes but also in groups of discontiguous notes that formed a coherent "stream" as long as the number of notes intervening corresponded to a standard temporal grouping, or meter, such as is commonly found in Western music.

Choice Behavior↗
PubMed1982

Training primary health care workers in Upper Volta.

In collaboration with aid agencies and government health workers, Save the Children Fund medical staff have been involved in the training of primary health care workers in the Sahel region of upper Volta. This report deals specifically with the problems involved in training illiterate health workers.

Burkina Faso↗