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Biomedical subjects

R Coco

Publications and source records attributed to R Coco.

41 records · Page 3Linked to original sources
PubMed1975

A case of ring 18 chromosome in a sibship with multiple spontaneous abortions.

We report the study of a female infant with physical stigmata suggestive of 18 chromosomes deletion, in whom cytogenetic studies revealed a 446,XX,r(18) complement. She was the last born of a sibship of seven composed otherwise by three spontaneous abortions, two perinatal deaths and one living female. The chromosome studies of the parents were normal. The cytogenetic finding and the phenotype are discussed in relation to the 18 chromosome deletion syndromes. The phenotype of the propositus would indicate that her ring 18 is significantly deficient of long arm segment. The apparent sporadic occurrence of this chromosomal anomaly in this family is discussed.

Abnormalities, Multiple↗
PubMed1975

Trisomy 13 with a 13q14q translocation.

A sporadic case of Patau syndrome with 46,XY,14-,t(13q14q)+ karyotype is reported in a 2-month-old child. Dermatoglyphic and cytogenetic findings of the propositus and cytogenetic study of his parents are presented.

Abnormalities, Multiple↗
PubMed1975

Asymmetrical gonadal differentiation and gonadoblastoma. Clinical, cytogenetic and histological findings. Case report.

A 10 10/12 years old virilized girl with the syndrome of asymmetrical gonadal differentiation is reported. The patient had a negative sex chromatin and positive Y chromatin (bright fluorescent body of Y chromosome) in the buccal smear and 45,X/46,XY karyotype in the peripheral blood lymphocytes. An exploratory laparotomy showed a small uterus, two Fallopian tubes, a tumoural testis on the right side and a streak on the left side. Pathological examination revealed the presence of gonadoblastoma in both gonads. The Y chromatin was identified on histological sections only on the side of the testis, and was absent on the streak and its gonadoblastoma's nests. The distribution of the different cell lines and the fluorescence of the Y chromosome is discussed in relation to gonadal differentiation and the occurrence of gonadoblastoma.

Child↗