De novo 10q(q21q22) interstitial deletion.
We report a girl with a de novo interstitial deletion in the long arm of a chromosome 10. Clinical features are described.
Biomedical subjects
Publications and source records attributed to G Glover.
We report a girl with a de novo interstitial deletion in the long arm of a chromosome 10. Clinical features are described.
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MR images can be obtained with a 2-sec scan time when an extremely short repetition rate (22 msec), limited flip angle (30 degrees), and gradient refocused echoes are used. Comparison of 415 such images obtained in 29 patients with routine T1-weighted (TR 500, TE 25) and T2-weighted (TR 2000, TE 80) images showed that images free of respiratory artifacts could be obtained in all patients. Although abdominal organs were well seen with 2-sec scan time, overall evaluation of these organs was better on routine T1-weighted images. Vascular structures, however, were seen as well or better on the 2-sec images in 60% of cases. The images were extremely sensitive to field nonhomogeneity, and metallic artifact was exaggerated in five patients with surgical clips. Two-sec MR images provide a rapid method of localizing abdominal organs for further evaluation. The sensitivity to blood flow may assist in the assessment of vascular patency.
Cine MR imaging provides tomographic images of the heart with both high spatial and high temporal resolution. As many as 32 images per cardiac cycle can be acquired with up to four separate anatomic slices and a total imaging time of 128 cardiac cycles. End-diastolic and end-systolic volumes were determined in 11 patients, and ejection fractions were calculated. The results correlated linearly with those from cardiac catheterization (correlation coefficient of .88). We conclude that cine MR imaging can be used to obtain quantitative information about the heart and has the potential to become a valuable noninvasive means of cardiac evaluation.
An increased frequency of mitoses showing premature centromere division (PCD) in every chromosome was found in lymphocyte cultures from four members of a subfertile family. These cells were observed in both the presence and absence of colchicine. Cultured fibroblasts from the proband showed only normal diploid metaphases. PCD cells seemed to have a shorter cell cycle. The anomaly was transmitted in a way compatible with autosomal dominant inheritance in this family.
A method of chemical-shift imaging is described using the invariance of chemical shifts to changes in magnetic field gradients used for frequency encoding of position in imaging. This enables separation of the effects on the observed signal of chemical shift from the effects of different positions along the imaging gradient when the signal is observed with different gradients. A simple implementation for a two-line spectrum is presented using signals observed with normal and reversed imaging gradients. This is used to create "fat" and "water" images of the thigh.
A patient with multiple congenital anomalies suggestive of the "Cat eye" syndrome was found to have an extra marker bisatellited chromosome 22 derived from a maternal Y/22 translocation, identified by multiple banding patterns in cultures treated with DA. The proband's karyotype is 47,XX, + psu idic(22)(Yqter----Yq12::22p13----22q11::++ +22q11----22p13::Yq12----Yqter), t(22;Y)(p13;q12)mat., being tetrasomic for 22pter----q11, and trisomic for Yqh. Similarity between his clinical features and reported "Cat eye" cases, confirms that this region is responsible for the phenotypical expression of the syndrome.
Coronal nuclear magnetic resonance (NMR) abdominal imaging was performed on a normal volunteer. The scan technique and anatomic features are described. Coronal abdominal scanning optimizes vascular imaging in the abdomen and is helpful in defining the anatomic relationships of a variety of structures.
In a study of a series of mild and spinal varieties of multiple sclerosis the following histological changes have been found in the macroscopically normal white matter: 1. Marked astrocytic proliferation. 2. Some sclerosis of blood vessels. 3. Some perivascular inflammation. 4. Occasional unsuspected demyelination.
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In a Spanish region with a population of one million, we screened 371 mentally retarded males, who had no previous diagnosis for fragile X [fra(X))] syndrome. Fifty-three of the 371 males were fra(X) positive. Of these 44 of 362 or 12.1% were unrelated. Family studies identified a large number of obligate carriers and women at risk for being carriers who were given genetic counseling including prenatal diagnostic information. Considering the age of the carriers and the fertility rate, 23 affected males could be born to these women. The prevention potential of this program suggests that it is highly cost-effective.
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