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Biomedical subjects

R L Summitt

Publications and source records attributed to R L Summitt.

25 records · Page 2Linked to original sources
PubMed1977

Apparently balanced de novo translocations in patients with abnormal phenotypes: report of 6 cases.

Six patients have been ascertained because of abnormal phenotypes but with apparently balanced de novo translocations. Five of them were mentally retarded with multiple congenital anomalies. The sixth patient had normal mental development but revealed ambiguous genitalia and multiple congenital anomalies. No syndromal diagnosis was possible in any of the six cases. The appearance of apparently balanced reciprocal translocations in association with abnormal phenotype may be coincidental, or the two may be causally related. If the latter is true, the causal relationship may be based upon: 1) a submicroscopic chromosomal loss, 2) position effect, or 3) a mutation at the site of the break in one or both translocated chromosomes.

Abnormalities, Multiple↗
PubMed1977

Partial monosomy and partial trisomy for different segments of chromosome 13 in several individuals of the same family.

A reciprocal translocation, 46,XX,rcp(13;17)(q13;p13), was found to be segregating in a family. Two children have duplication of the distal portion of the long arm of chromosome 13, 46,XX,der(17),rcp(13;17)(q13;p13)mat. They are mentally retarded, have long philtra and postaxial hexadactyly. A maternal half-uncle has a duplication of the short arm and proximal portion of the long arm of chromosome 13, 47,XY,+der(13),rcp (13;17)(q13;p13)mat. He is mentally retarded, has scalp and skull defects and a very short philtrum. A fetus was found, on analysis of amniotic fluid cells, to have a deletion of the distal portion of the long arm of chromosome 13, 46,XX,der,(13),rcp(13;17)(q13;p13)mat. The fetus had multiple internal abnormalities and only 4 fingers on each hand.

Adult↗
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

Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.

This report deals with a reciprocal t(10;21) translocation which is observed in three generations of a family. Included are examples of the balanced translocation, adjacent-2 segregation producing three patients with trisomy of the distal long arm of chromosome 21 and the Down syndrome, and 3-1 disjunction producing trisomy of the proximal segment of chromosome 21 in a mildly mentally retarded boy without phenotypic features of the Down syndrome. These data provide evidence that the Down phenotype is attributable to trisomy of the distal long arm of chromosome 21.

Chromosome Aberrations↗
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↗