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C Sandlin

Publications and source records attributed to C Sandlin.

9 recordsLinked to original sources
PubMed1998

Relationship of circadian temperature and activity rhythms in two rodent species.

Despite the large number of publications concerning circadian body temperature in rodents, relatively little is known about phase relationships of the body temperature cycle relative to daily locomotor rhythms. Phase angle differences between core body temperature and locomotor activity were determined by a group of overlapping methods for 14 hamsters and 11 chipmunks under constant light (LL) and entrained (LD) photo schedules. The study compared the onset of the body temperature cycle with three separate components of daily locomotor activity: the onset of wheel running, the onset of total activity in a standard wheel cage, and the onset of total activity in a restricted cage, respectively. The temperature cycle showed a pronounced phase lead over onset of wheel-running activity in all hamsters and in the majority of chipmunks, but the phase lead was reduced when total activity was considered. With activity restriction, the onset of temperature rise and activity onset concurred. The body temperature onset in some species may serve as a valid phase point for indirect measurement of circadian timing, but the potential artifact of masking by heat generated from muscular activity should be kept clearly in mind.

Animals↗
PubMed1993

Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens.

Detection of chromosome aneuploidies in uncultured amniocytes is possible using fluorescence in situ hybridization (FISH). We herein describe the results of the first clinical program which utilized FISH for the rapid detection of chromosome aneuploidies in uncultured amniocytes. FISH was performed on physician request, as an adjunct to cytogenetics in 4,500 patients. Region-specific DNA probes to chromosomes 13, 18, 21, X, and Y were used to determine ploidy by analysis of signal number in hybridized nuclei. A sample was considered to be euploid when all autosomal probes generated two hybridization signals and when a normal sex chromosome pattern was observed in greater than or equal to 80% of hybridized nuclei. A sample was considered to be aneuploid when greater than or equal to 70% of hybridized nuclei displayed the same abnormal hybridization pattern for a specific probe. Of the attempted analyses, 90.2% met these criteria and were reported as informative to referring physicians within 2 d of receipt. Based on these reporting parameters, the overall detection rate for aneuploidies was 73.3% (107/146), with an accuracy of informative results for aneuploidies of 93.9% (107/114). Compared to cytogenetics, the accuracy of all informative FISH results, euploid and aneuploid, was 99.8%, and the specificity was 99.9%. In those pregnancies where fetal abnormalities had been observed by ultrasound, referring physicians requested FISH plus cytogenetics at a significantly higher rate than they requested cytogenetics alone. The current prenatal FISH protocol is not designed to detect all chromosome abnormalities and should only be utilized as an adjunctive test to cytogenetics. This experience demonstrates that FISH can provide a rapid and accurate clinical method for prenatal identification of chromosome aneuploidies.

Adult↗
PubMed1989

Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1).

We describe a family in which one male infant presented with Miller-Dieker syndrome and four male relatives had a phenotype similar to the Smith-Lemli-Opitz (SLO) syndrome. High resolution cytogenetic analysis on the child with Miller-Dieker syndrome showed 46,XY,-17,+der17t(7;17)(q34:p13.1). Paternal chromosomes showed a balanced translocation: 46,XY,t(7;17)(q34:p13.1). The paternal grandmother had a history of multiple miscarriages, and a paternal uncle had two sons who died neonatally. Chromosomes on these children and their father had originally been reported as normal. There was also a paternal cousin to the father of the propositus who had had two sons with similar clinical findings. A diagnosis of SLO syndrome was considered. Image enhancement techniques on previous suboptimal preparations on these four children documented the subtle unbalanced translocation 46,XY,-7,+der7t(7;17)(q34:p13.1). Subsequent high resolution analysis on one of these four children who was still living confirmed this chromosome constitution. It is postulated that these apparent SLO cases may represent a contiguous gene syndrome in which SLO or a separate entity closely mimicking the syndrome in included.

Abnormalities, Multiple↗
PubMed1987

Prenatal diagnosis of mosaic trisomy 9.

Mosaic trisomy 9 was detected in an amniotic fluid cell culture from a 40-year-old woman evaluated because of advanced maternal age. After counselling, parents elected to terminate the pregnancy. On autopsy the fetus was found to have hydrocephalus and a single kidney. The diagnosis of trisomy 9 mosaicism was confirmed in cultured skin fibroblasts. This is the third reported case of trisomy 9 mosaicism diagnosed prenatally.

Adult↗
PubMed1983

The hand in the Pierre Robin syndrome.

In reviewing eight cases of children with the Pierre Robin syndrome, we found three cases to have abnormalities of the extremities such as syndactyly, hypoplastic digits, and a Poland syndrome. These hand abnormalities have not been previously emphasized in patients with the Pierre Robin syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Hand involvement in 13q deletion syndrome.

Deletion in the long arm of chromosome 13 is relatively rare. Fewer than 100 cases are reported in the literature. Patients with 13q deletion have widely variable phenotypes. Hand anomalies, when present, include absent or hypoplastic thumbs, bony synostoses of the metacarpals, and brachyphalangy of the middle phalanx of the little finger. We report four cases with 13q deletion seen at our Hand Clinic.

Child↗