Search PubMed⌕ Search

Biomedical subjects

R S Wilroy

Publications and source records attributed to R S Wilroy.

At least 73 records · Page 4Linked to original sources
PubMed1975

Features of Turner's syndrome in women with polycystic ovaries.

Four women with phenotypic features of Turner's syndrome and with poly cystic ovaries (PCO) are describe. In addition to the phenotypic features, Case 1 had primary amenorrhea and small PCO, Case 2 had a 46, XX/45, X karyotype (lumphocytes), Case 3 had enlarged PCO which contained a decreased number of oocytes, and Case 4 had enlarged PCO and was short in statute. These cases support the concept of a relation between PCO and the X chromosome. Some PCO may represent an intermediate condition in a spectrum that extends from the streak gonad of Turners syndrome to the normal ovary. Evidience for X chromosome involvement in PCO is summarized. The concept is advanced that at least some cases of OCO may be due to X chromosomal factors causing an abnormal follicular appartus.

Adolescent↗
PubMed1975

Polycystic ovarian disease, maturation arrest of spermiogenesis, and Klinefelter's syndrome in siblings of a family with familial hirsutism.

A family with hirsutism in five generations in which polycystic or bilaterally enlarged ovaries were documented in three different sibships of two generations is described. Two brothers of one of the women with polycystic ovaries had a low or low-normal plasma follicle-stimulating hormone level and one of these had oligospermia due to maturation arrest of spermiogenesis. A third brother had Klinefelter's syndrome. Other abnormal features in the family included precocious adrenarche, beardless males, eunuchoidism, and prepubertal grand mal seizures.

Adolescent↗
PubMed1974

Argininosuccinic aciduria: investigation of an affected family.

Two siblings with argininosuccinic aciduria were studied by an interdisciplinary team. Considerable variability in the clinical expression of this disorder was observed in comparison with previously reported cases. Detection of the heterozygous state in the parents and in a fetal sibling was demonstrated by tissue assay for argininosuccinase activity. Mental retardation and neurologic deficits in the affected children were irreversible with dietotherapy but growth was progressive and the general course was relatively benign.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

Pericentric inversion of chromosome 19: prenatal diagnosis and genetic counselling.

During prenatal diagnosis for advanced maternal age, a pericentric inversion of a chromosome 19 was detected in a male fetus. The inversion was familial, transmitted to the fetus by the phenotypically normal mother. The pregnancy resulted in a term birth of a phenotypically normal male infant. Inversion 19 appears to be a rare abnormality with only seven families reported thus far including ours. Infants with duplication deficiencies for chromosome 19 have not been reported in these families. This may suggest an apparent suppression of crossing over and recombination within the inverted segment of chromosome 19 during meiosis.

Adult↗