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Biomedical subjects

J German

Publications and source records attributed to J German.

At least 127 records · Page 7Linked to original sources
PubMed1972

Genetic rounds.

Explore the source record for details and available documents.

Genetic Diseases, Inborn↗
PubMed1971

Pseudovaginal perineoscrotal hypospadias (PPSH) in sibs.

Pseudovaginal perineoscrotal hypospadias (PPSH) is a descriptive name applied to a specific developmental disorder of sexual development in males. Incomplete masculinization of the external genitals of affected individuals-essentially the only abnormal feature of the syndrome-results in varying degrees of genital ambiguity. Testes are present, however, and generalized virilization occurs at puberty, emphasizing the importance of accurate diagnosis early in life. Our report of three affected sibs born to related parents appears to confirm earlier suggestions that PPSH is a genetic disorder, transmitted in autosomal recessive fashion.

Adult↗
PubMed1971

Abnormalities of human autosomes. I. Ambigous genitalia associated with a translocation 46,XY, t(Cq+;Cq-).

Ambiguity of the external genitalia, along with other milder developmental defects, occurred in a boy with an autosomal aberration, translocation between long arms of two of the shorter members of Group C. The case raises the possibility of a specific effect on development of the external genitalia of autosomal loci and emphasizes that pseudohermaphroditism can on occasion result from autosomal abberations.

Acetabulum↗
PubMed1971

Bilateral anorchia: discordance in monozygotic twins.

The bilateral absence of testes is described in one of two otherwise healthy and well-developed 12-year-old identical twin boys. The twins' father has only one palpable testis. The occurrence of complete anorchia in only one of otherwise identical twins constitutes relevant new data for considering the etiology of this rare condition and in assaying the role of the testis in growth and development between birth and puberty.

Body Height↗
PubMed1971

Abnormal Y chromosomes and monosomy 45,X: a concept derived from the study of three patients.

De novo structural rearrangement of the Y chromosome was discovered in one cellular component of a mosaicism in each of three individuals. In each case another cellular component had lost the Y chromosome completely and was monosomic (45,X). Consideration of these three observations, in light of the regularity with which an association has been reported previously, led to the formulation of a concept to explain, in terms of a single disruptive cytogenetic event in the zygote or an early postzygotic cell, the simultaneous derivation of a cell with an abnormal Y and a monosomic sister cell devoid of a Y completely. An intrachromosomal rearrangement affecting the Y is proposed to give rise to one rearranged Y and to one acentric Y fragment. The unlike sister cells derived would be progenitors of two abnormal cellular components of a mosaic embryo. Should the rearrangement occur in a postzygotic cell, a third and normal (46,XY) component would be represented as well.

Adult↗
PubMed1971

Males with a uterus and fallopian tubes, a rare disorder of sexual development.

A man (46,XY) is described with an intraabdominal uterus and fallopian tubes. His testes, each of which contained a gonadoblastoma, occupied the intraabdominal adnexal position, leaving the scrotum empty. His external genitalia were unambiguously male. A vagina opened into the urethra. His presenting complaint was inguinal hernia. This developmental defect has been described previously, but genetic aspects and its relation to other conditions, "mixed" gonadal dysgenesis in particular, remains obscure pending the recognition and reporting of more cases studied in the light of recent cytogenetic advances.

Adolescent↗