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Biomedical subjects

G Morillo-Cucci

Publications and source records attributed to G Morillo-Cucci.

16 recordsLinked to original sources
PubMed1976

De novo appearance of a translocation t(5p; 2Iq), and its transmission in both balanced and unbalanced forms to the next generation.

A family is described in which a reciprocal translocation involving 5p and 21q appeared de novo in the chromosome complement of a woman who then transmitted it in both balanced and unbalanced form to her progeny. The proposita, a child with the cri du chat syndrome, had a deficiency for most of 5p, all of 21p, 21 centromere, and a small proximal segment of 21q. The reported cases of the cri du chat syndrome associated with translocations are reviewed and discussed in relation to this family.

Chromosome Aberrations↗
PubMed1975

A patient with the Larsen syndrome.

A child with the Larsen syndrome is described. His multiple malformations included a flattened nasal bridge and other unusual facial features, a cleft palate, a poorly developed larynx and dislocations involving several joints.

Abnormalities, Multiple↗
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↗