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Biomedical subjects

R Coco

Publications and source records attributed to R Coco.

At least 37 records · Page 2Linked to original sources
PubMed1980

Testicular function in varicocele.

Testicular testosterone concentration serum testosterone, LH and FSH, sperm count and testicular histology were evaluated in 17 patients with varicocele. Testicular testosterone was either normal or high (mean 906 +/- 723 ng/g of tissue), and serum testosterone was within the normal range in most patients. Serum LH was elevated in half of the patients. The degree of testicular damage observed was extremely variable and correlated with sperm analysis. Testicular testosterone tended to be higher in patients with severe microscopic lesions of the testis. It is concluded that even though Leydig cell function is partially altered, this deficiency is compensated by LH stimulation and therefore, failure of spermatogenesis is not secondary to low testosterone levels.

Adult↗
PubMed1978

Ovarian differentiation in Turner's syndrome.

The authors have studied the gonadal histogenesis and the sexual chromosome influence on the gonads of 17 patients with the following complements : 45,X/46,XXqi (1 case); 45,X (4 cases); 45,X/46,XXP--(1 cases); 45,Xq-- (1 case); 45,X/46,XX (8 cases); 45,X/46,XX/46,XXqi (1case); and 45,X/46,XXqi/47,XXqiXqi (1 case). The presence of sexual differentiation structures was investigated : coelomic epithelium, stromal characteristics, follicles sexual cords, medullary tubules, rete ovarii, hilar cells, mesonephric remnants and coelomic epithelium inclusions. All gonads were constituted by rudimentary ovarian stroma with different states of hyalinization. Primordial follicles were noted in two patients with respectively 45,X/46,XX and 45,X/46,XXqi/47,XXqiXqi karyotypes, and a cystic follicle was present in one patient 45,X/46,XXp--. Sexual cords were seen in 6 patients and medullary tubules in 9. Different amounts of hilar cells were found as well. The authors conclude that in Turner's syndrome there exists an ovarian dysgenesis which is probably caused by early involution before reaching the maturation, conditioned by the genetic incapacity of the oogonia to complete the meiotic prophase.

Adolescent↗
PubMed1978

Inherited parital duplication deficiency of chromosome 15 (p12;q22).

Description of a boy aged 20 months presenting growth and mental retardation as well as several minor anomalies : brachycephaly, antimongoloid slant of the palpebral fissures, dystopia canthorum, broad nose, low set ears and short fingers. Chromosome analysis revealed an abnormal No. 15 with duplication of the distal half segment of its long arm (q22 leads to qter) and deficiency of the distal band of its short arm (p13). This anomaly was inherited by recombination aneusomy of a pericentric inversion carried by his mother : inv(15) (p12;q22).

Chromosome Aberrations↗
PubMed1978

Partial trisomy 13q inherited from balanced translocation (5;13) (p14;q13).

A girl with multiple congenital malformations was found to have an abnormal karyotype: 46,XX,t(5;13) (13pter leads to 13q13 : : 5p14 leads to 5qter), meaning that she is monosomic for the distal part of the short arm of chromosome No. 5 (from 5pter to 5p14) and trisomic for the long arm of chromosome No. 13 (from 13q13 to 13qter). The proband's father is a carrier of a balanced reciprocal translocation: 46, XY, t(5;13) (p14;q13) (13qter leads to 13q13 : : 5p14 leads to 5qter; 13pter leads to 13q13 : : 5p14 leads to 5pter). Therefore, the propositus' abnormal karyotype was interpreted as the result from an adjacent type 1 malsegregation of the meiotic paternal quadrivalent MI22,IV (5p 14;13q13). Her phenotype agrees with the preliminar map of Noël et al. (1976) but, in addition, she shows craniosynostosis and practically normal psychomotor maturation.

Abnormalities, Multiple↗
PubMed1977

Partial deficiency of long arm of chromosome No. 11.

A child is presented with slight psychomotor retardation and few minor anomalies, in whom the cytogenetic analysis revealed a de novo translocation between the long arms of chromosomes 8 and 11, with deficiency of a small distal segment of 11q.

Child Development↗
PubMed1977

Trisomy for the short arm of chromosome No. 10.

To the authors knowledge there is a single previous report of confirmed trisomy for the short arm of chromosome No 10 (Hustinx et al., 1974). In this paper we present a further case of trisomy 10p, resulting from 3 : 1 segregation of maternal balanced translocation, t(3;10)(q;11), in a female infant aged 7 months and showing numerous somatic anomalies.

Abnormalities, Multiple↗
PubMed1977

Cytogenetic findings in 125 patients with Turner's syndrome and abnormal karyotypes.

A total of 186 girls with clinical signs of Turner's syndrome were cytogenetically studied. From this total, 125 (67.20%) had abnormal and 61 (32.80%) normal karyotypes. Among the patients with abnormal karyotypes, 68 had negative sex chromatin (54.40%) and 57 positive sex chromatin (45.60%). Chromosomal studies in chromatin-negative patients allowed us to detect 44 karyotypes 45,X, 20 structural X anomalies (14 rings, 4 deletions for the long arm, 2 deletions for the short arm) and 4 patients with 45,X/46,XY mosaics, while chromosomal studies in chromatin-positive patients revealed 57 abnormal and 61 normal karyotypes. The isochromosome for the long X arm was more frequent, either in pure line or in mosaicism, than the 45,X/46,XX mosaic. From the 61 patients with normal karyotypes, 21 had significative short stature (under the 3rd percentile) as the main feature, with the bone age equal to, or advanced for chronological age. The remaining 40 patients had, in addition, other typical features of Turner's syndrome. Although the possibility of a not detected mosaic cannot be discarded, its absence would suggest a genetic etiology.

Acridines↗
PubMed1975

Trisomy 22. Two new cases and delineation of the phenotype.

Two unrelated children, not affected with Down's syndrome, with strikingly similar phenotypes and an extra G-like chromosome are presented. Quinacrine and trypsin-Giemsa banding identified the extra chromosome as No. 22. The phenotype of these patients and the review of 15 additional similar cases from the literature permit a definition of the cardinal features of trisomy 22; mental and growth retardation, microcephaly and craniofacial asymmetry, strabismus, beaked and prominent nose, long philtrum, cleft palate, micrognathia, large low set ears with preauricular tags and/or pits, long slender fingers, congenital heart disease, inguinal hernia, and hip dislocation.

Abnormalities, Multiple↗
PubMed1975

Partial 9 trisomy by 3:1 segregation of balanced maternal translocation (7q+; 9q-).

A male infant is presented with an extra derivate chromosome No. 9 resulting from a 3:1 meiotic segregation of a maternal balanced translocation involving the long arms of chromosomes No. 7 and 9. The patient is trisomic for the short arm and secondary constriction of the long arm of No. 9 and for the telomeric end of the long arm of No. 7. In addition to the features of the 9p trisomy syndrome he presents marked congenital myopia and extreme hypoplasia of the penis.

Chromosome Aberrations↗