Case report of de novo dup(18p)/del(18q) and r(18) mosaicism.

This is a report of a 27-year-old woman with an unusual de novo chromosomal abnormality. Mosaicism was identified in peripheral blood cells examined by standard G-bands by trypsin using Giemsa (GTG) analysis and fluorescence in situ hybridization (FISH) analysis with chromosome-18 region-specific probes, 46,XX,del(18)(pter --> q21.33:)[41], 46,XX,r(18)(::p11.21 --> q21.33::)[8], and 46,XX,der(18)(pter --> q21.33::p11.21 --> pter)[1]. On the other hand, the karyotype of periodontal ligament fibroblasts was nonmosaic, 46,XX, der(18)(pter --> q21.33::p11.21 --> pter)[50]. All cell lines appeared to be missing a portion of 18q (q21.33 --> qter). The pattern of the dup(18p)/del(18q) in the rod configuration raises the possibility of an inversion in chromosome 18 in one of the parents. However, no chromosomal anomaly was detected in either parent. The most probable explanation is that de novo rod and ring configurations arose simultaneously from an intrachromosomal exchange. The unique phenotype of this patient, which included primary hypothyroidism and primary hypogonadism, is discussed in relation to her karyotype.

Characteristics of movement of the lips, tongue and velum during a bilabial plosive: a noninvasive study using a magnetic resonance imaging movie.

OBJECTIVE: To obtain dynamic images of articulators using a magnetic resonance imaging (MRI) movie and to clarify the relationships among the articulators. MATERIALS AND METHODS: The subjects consisted of 10 volunteers. Custom-made circuitry was connected to an MRI apparatus to enable an external trigger pulse to control the timing of the scanning sequence and to provide an auditory cue for synchronization of the subject's utterance. The subject repeated a bilabial plosive, and the run was measured using a gradient echo sequence with a repetition time of 30 ms. Several variables were defined to delineate the individual movements of articulators and to determine the temporal relationships among them. RESULTS: It was found that (1) the change in these variables showed distinctive waveforms; (2) mean values of the standard deviations for these variables were relatively small; and (3) the movement of the velum was significantly correlated with those of the lips and the anterior part of the tongue, but not with the posterior part of the tongue. CONCLUSIONS: These results suggest that (1) articulatory movements were clearly recorded using an MRI movie, and (2) there seems to be a central mechanism for controlling articulators, and the level of coupling may be associated with the place of articulation.