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Biomedical subjects

E Orye

Publications and source records attributed to E Orye.

At least 37 records · Page 2Linked to original sources
PubMed1975

A 46,XX,10Q+ chromosome constitution in a girl. Partial long arm duplication or insertional translocation?

A girl with slight psychomotor retardation, microphthalmia, and colobomata of the left eye, a hypotrophy of the right arm and a surnumerary digit on the right hand is described. The routine chromosome analysis and a G-banding analysis revealed an elongated long arm of chromosome 10. An extra light and dark band was present proximally. Both parents had normal chromosomes. While the visual comparison of the abnormal with the normal chromosome 10, did not enable the extra bands of the normal bands q21 and q22 to be distinguished. However, measurements of length, surface area, and relative reflection of the different light and dark bands of the long arm on tracings or directly on the normal and abnormal chromosomes, enabled us to precisely locate the extra bands and to determine that the abnormal chromosome was a result of an insertional translocation. The value of such measurements is discussed.

Arm↗
PubMed1975

Unexpected findings with the new chromosome banding techniques in a patient formerly diagnosed as having G-deletion syndrome II.

A girl is described, who, upon her first admission to our pediatric department in 1965, was supposed to have G-deletion syndrome II on the base of the chromosome findings in routine orcein-stained preparations and her clinical aspect. When, however, in 1972 a Q- and G-banding analysis was performed, the patient seemed to be a t(14q+; 22q-) translocation carrier. These findings are discussed in relation to the known heterogeneity of the clinical picture of patients previously reported as having a G-deletion syndrome and in whom no banding studies were done. Finally, the need for more extensive studies with the different techniques is stressed, particularly, in cases of Gq- chromosomes, of which the familial occurrence is suggestive of a hidden reciprocal translocation.

Child↗
PubMed1975

A new case of the trisomy 9P syndrome. Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p) and a peculiar congenital heart defect.

A girl is described for whom an unusual chromosome constitution was found and who had a peculiar congenital heart defect. The girl showed the main clinical features of the trisomy 9p syndrome, such as psychomotor retardation, microcephaly and brachycephaly, enophthalmos, antimongoloid eye slant, hypertelorism, abnormal ears, a globulous nose, downward slanting mouth, hypoplasia of phalanges and abnormal palmar creases. In addition, the girl had an incomplete harelip, a cleft palate and a peculiar congenital heart defect, a ventricular septal defect with pulmonary valve stenosis and a marked hypoplasia of the pulmonary trunk, including the bifurcation. Chromosome analysis revealed a mosaicism with normal and abnormal mitoses (47 chromosomes). The extra chromosome was a metacentric E16-like chromosome, which on the basis of the G, R, Q and Giemsa-11-banding could be identified as an isochromosome of the short arm of chromosome 9 (46,XX/47,XX, +i (9) (pter leads to cen leads to pter)). The patient consequently had a partial tetrasomy of the short arm of chromosome 9.

Abnormalities, Multiple↗
PubMed1975

The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation.

A new case of the 9p- chromosome-deletion syndrome is described. The 9p-chromosome, identified by the G-, R-, Q- and G11-banding techniques, showed mainly a deletion of bands p23 and p24. Routine chromosome analysis and banding studies in the parents revealed normal chromosomes in the mother and a balanced t (9p-; 15q+) translocation in the father. The main clinical features of the proband are narrow cranium, prominent forehead, flat occiput, hyperteloris, flat bridge of the nose, long upper lip, micrognathia, low-set and abnormal ears, short, broad neck, wide-set nipples, systolic murmur, umbilical hernia, diastasis musculi recti, short arms and broad thumbs, equinovarus adductus, hypotonia and psychomotor retardation. These clinical findings are compared with those of the three 9p- cases found in the literature.

Abnormalities, Multiple↗
PubMed1973

Mucopolysaccharidosis: secondarily induced abnormal distribution of lysosomal isoenzymes.

Total activities of acid hydrolases in liver of two patients with mucopolysaccharidosis are decreased for beta-galactosidase, alpha-galactosidase, and arylsulfatase A; total activities of four other hydrolases are normal or increased. The isoenzyme distribution of five hydrolases (beta-glucuronidase, alpha-glucosidase, beta- galactosidase, N-acetyl-beta-glucosaminidase, and alpha-galactosidase) is ábnormal in that the isoelectric points (by isoelectric focusing) of these enzymes are more acid than in control liver. Along with the isoenzyme abnormalities different kinds of glycolipids were stored in kidney, liver, and brain. The isoenzyme abnormalities can be reproduced in vitro by addition of chondroitin sulfate to a homogenate of normal liver, suggesting that stable binding occurs between mucopolysaccharides and the hydrolase molecules. After the addition of chondroitin sulfate, the total activity of beta-galactosidase is inhibited, whereas other hydrolases are affected only slightly or not at all.

Brain Chemistry↗