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Biomedical subjects

J X Li

Publications and source records attributed to J X Li.

At least 91 records · Page 5Linked to original sources
PubMed1981

Inherited translocation t(4;5) discovered on prenatal diagnosis.

We report an apparently balanced reciprocal t(4q;5q) translocation ascertained coincidentally on amniocentesis in a phenotypically normal male fetus and found to be inherited in his mother and maternal grandmother. No banding study was available at the time of the amniocentesis, and the chromosomal status of his parents was unknown. Because of the possibility that this finding might be a de novo, unbalanced translocation, the pregnancy was terminated. Subsequently, the translocation was found to be apparently balanced, but so unequal that both unbalanced translocation products are presumed to be lethal. Thus, it is predicted that only carriers and normal individuals will be conceived and viable in this family. We are unaware of previously observations on a similar (4q;5a) translocation.

Adult↗
PubMed1980

Sex chromosome and chromatin examination in gynecology.

Sex chromosome and chromatin examinations with hormone determinations were done on 41 cases seen at the gynecologic clinic suspected of having sexual developmental abnormalities. 22 (53.7%) had genetic, gonadal or hormonal abnormalities, including ovarian dysgenesis 9 cases, superfemale 1 case, XY pure gonadal dysgenesis 4 cases, 3 of whom had already developed gonadal malignancy, pseudovaginal perineoscrotal hypospadias 1 case, androgen insensitivity syndrome 2 cases and congenital adrenal hyperplasia 3 cases. The values and limitations of sex chromosome and chromatin examinations as well as the prevention of gonadal malignancy are discussed.

Adolescent↗