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Biomedical subjects

D Tomkins

Publications and source records attributed to D Tomkins.

10 recordsLinked to original sources
PubMed2002

Identification of a dup(5)(p15.3) by multicolor banding.

A 7-year-old female was referred to the Genetics Clinic because of developmental delay and attentional difficulty. The patient was adopted and there was a nonspecific prenatal history of drug and alcohol abuse. The patient had clinical signs that were not compatible with typical fetal alcohol syndrome (FAS), although there was a history of alcohol exposure in utero, neurodevelopmental difficulties with learning and behavioral problems, and mild dysmorphisms. Cytogenetic analysis revealed an unbalanced female karyotype with a dup(5) containing additional chromosome 5 material at band 5p15.3. The dup(5) showed normal copy number of the cri-du-chat region on 5p15.2 using locus-specific probes D5S721 and D5S23. Multicolor banding of chromosome 5 (MetaSystems) using partial chromosome paint (pcp) probes showed a duplication of band 5p15.3. The karyotype of the patient was therefore interpreted as follows: 46,XX,add(5)mat.ish dup(5)(p15.3)(wcp5 +, D5S271 +, D5S23 +, C84C11/T3 + +, pcp5p15.3 + +). The patient's biological mother and maternal half-brother were found to carry the identical chromosome duplication. The clinical phenotype of the biological mother is complicated by a difficult lifestyle but there were apparent learning and behavioral difficulties at school. The half-brother is nondysmorphic and presents with learning problems and attention deficit disorder (ADD). His physical examination was normal. To the best of our knowledge, this is the first report of a limited duplication of 5p15.3. The clinical significance of the dup(5)(p15.3) is still uncertain but may be the basis for learning and attention difficulties.

Abnormalities, Multiple↗
PubMed2000

Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group.

Roberts syndrome (RS) is a rare autosomal recessive disorder characterized by heterogeneous clinical features, the most notable being tetraphocomelia, cleft lip, and cleft palate. Cells derived from most RS patients exhibit abnormal cytogenetic and cellular phenotypes that include the premature separation of para- and pericentromeric heterochromatin visible on C-banded metaphase chromosomes, a phenomenon referred to as heterochromatic splaying. Previously, it was shown that these abnormal phenotypes can be complemented following somatic cell hybridization between RS cells and control cells. In the current study, a permanent cell line was established from a new RS patient with a more severe phenotype than represented by previously established cells in culture. With a newly developed assay designed to facilitate rapid evaluation of in vitro complementation, we assigned this new patient to the same genetic complementation group defined by other, less severely affected patients. The results demonstrate that a single complementation group defines RS patients with heterochromatic splaying regardless of clinical severity.

Abnormalities, Multiple↗
PubMed1997

Facilitatory effect of thinking about movement on magnetic motor-evoked potentials.

To investigate the facilitatory effect of thinking about movement on motor evoked potential (MEP) amplitude, we recorded MEPs in two test muscles during rest, with the subject thinking about contracting the test muscle but without subsequent contraction, and during 10% maximum voluntary contraction. Stimuli were delivered at 10% above resting motor threshold and at 90-100% stimulator output. H-reflexes, recorded in flexor carpi radialis, were obtained during rest and think conditions. MEP threshold was lower during the think condition (P = 0.004). At both stimulus intensities, median MEP amplitudes and areas were significantly (P < 0.001) larger during the think paradigm compared with rest. This effect was greater at the lower stimulus intensity. There was no significant difference in latency (P = 0.15). In 4/8 subjects, H-reflex amplitudes were mildly facilitated (P < 0.05) during the think condition. We conclude that thinking about movement without detectable EMG activity has a facilitatory effect on magnetic MEPs. The absence of a MEP latency shift between rest and think conditions and absence of a consistent increase in H-reflex amplitude suggests this effect occurs largely at the cortical level. In some subjects, however, an increase in spinal motoneuron excitability may also contribute.

Adult↗
PubMed1982

46,XX/46XY chromosome complement in amniotic fluid cell culture followed by the birth of a normal female child.

Experience indicates that the most likely explanation for a mixture of 46,XX/46,XY cells in an amniotic fluid sample is that of maternal cell contamination and that a normal male child is to be expected at birth. We report the bith of a normal female child following prenatal diagnosis of such a mixture. Extensive postnatal studies failed to reveal an XY cell line. The possible sources of the XY cell line are discussed, as are the various techniques that were applied in an effort to discover it's origin. Cross-contamination of samples could be ruled out and there was no evidence of an unsuspected twin pregnancy. It is clear from this case that not all 46,XX/46,XY results obtained in amniotic fluid can be assumed to represent maternal cell contamination and some effort should be made to eliminate other potential sources for such a mixture.

Adult↗
PubMed1979

Cytogenetic findings in Roberts-SC phocomelia syndrome(s).

Roberts syndrome and SC phocomelia syndrome are an autosomal recessive condition of prenatal and postnatal growth retardation, symmetrical limb reduction, and craniofacial abnormalities. A distinction has been made between the two syndromes on the basis of relative severity of these manifestations. Where chromosome studies have been carried out, most have been reported as normal. However, there have been two reports of consistent centromere abnormalities; one in a patient with SC phocomelia (pseudothalidomide syndrome), the other in a patient with Roberts syndrome. Four patients with similar phenotypic manifestations have recently been shown in our laboratory to have the same centromere puffing and splitting. These four patients had other clinical manifestations in common, including bilateral corneal opacities, microcephaly, absence of radii, limited extension at knees and elbows, apparent enlargement of the phallus, and survival beyond the neonatal period.

Abnormalities, Multiple↗
PubMedDate not supplied

Effects of 5-HT3, D1 and D2 receptor antagonists on ethanol- and cocaine-induced locomotion.

The effects of acute treatment with 5-HT3 receptor antagonists, ondansetron and ICS 205-930, on the stimulation of activity induced by ethanol-and cocaine were examined. Ethanol (1.8 or 2 g/kg i.p.) or cocaine (15 mg/kg i.p.) produced a significant increase in locomotor activity (LMA) in DBA/2N mice. Pretreatment with ondansetron or ICS 205-930, in doses ranging from 0.001 to 0.1 mg/kg (s.c), did not modify ethanol or cocaine induced stimulation of activity. In contrast, pretreatment with a 10 micrograms/kg dose of either SCH 23390 or spiperone, a D1 and D2 dopamine (DA) receptor antagonist respectively, completely antagonized the stimulation of LMA induced by ethanol. Similar dose of SCH23390, but not spiperone, blocked the stimulation of activity induced by cocaine. These results indicate that D1 but not D 2 DA receptors play a significant role in cocaine induced hyperactivity whereas both D1 and D2 are involved the locomotor activating effects of ethanol.

Animals↗