Biomedical subjects
Publications and source records attributed to R S Sparkes.
Hepatic macrophages (Kupffer cells) from two male recipients of bone marrow transplants from females were studied for fluorescent Y body staining and sex chromatin (Barr body). After the transplant, macrophages had the sex karyotype of the donor, indicating that human hepatic macrophages originate in bone marrow.
Gene marker analyses have been carried out in a patient with 10q(q23 leads to qter) duplication. The observed elevation of red cell glutamic oxaloacetic transaminase activity is compatible with earlier somatic cell hybridization studies that mapped the locus to this region. Hexokinase-1 activity in the red cells was normal,which is consistent with its prior assignment to the unaffected part of chromosome 10(10pter leads to q23).
The frequency of minor chromosome variants, as detected by conventional chromosome analysis, was examined among 1,289 child psychiatric patients, of whom one-fourth had only behavioral problems and three-fourths had congenital abnormalities and more severe mental disorders. There was no more than random association between prominent satellites, prominent secondary constrictions or a long Y chromosome, and congenital abnormalities or more severe mental disorders. The frequencies of these chromosome variants were affected by race as has been shown in previous studies. These findings do not support the evidence for a developmental effect of minor variants in man.
Three separate somatic cell fusions were made between Chinese hamster lines and human lymphocytes containing (1) a 3/4 translocation, (2) an X/9 translocation, and (3) a 17/9 translocation. Eleven independently derived hybrids showed that only human chromosome 22 was consistently present when human ACONM was expressed and absent when human ACONM was not expressed. These studies assign a gene for human ACONM to chromosome 22, and are consistent with prior gene-mapping results.
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A newborn child with ambiguous external genitalia had evidence of internal female development on the left and internal male development on the right. Blood chromosome analysis showed three cell types: 45,X; 46,XY with the Y being submetacentric and about twice the usual size with two 'centromeric' C bands; and 46,X,dic(Y). Chromosome studies from the skin, uterus, and Fallopian tube showed almost exclusively 45,X cells. This represents the second reported patient in whom two centromeres are inconsistently expressed though present as shown by two 'centromeric' C bands.
In 2 adult male patients with 49 chromosomes, an XXXXY sex chromosome constitution was confirmed by trypsin-Giemsa banding sites. Clinical findings as well as fingerprint ridge counts were typical of the syndrome. Primary hypogonadism was documented by finding low serum testosterone and raised serum LH and FSH levels. Several radiological abnormalities, not previously described in this syndrome, were seen in 1 patient.
The interstitial deletion of a segment of chromosome 13, 13q21 leads to 13q22, and its inversion and insertion into the long arm of chromosome 3 at breakpoint q12, was found to segregate in 3 generations of a family. Segregation of this 3 break rearrangement gave rise to individuals monosomic, trisomic, or balanced for the involved segment. Monosomy for 13q21 leads to 13q22 was associated with mental retardation, expressive aphasia, microcephaly, hand abnormalities, and short stature. Partially trisomic individuals had normal mentality, extremely high arched palate, and mild dysmorphic features. There was no evidence for retinoblastoma in the individuals examined. The balanced carriers were normal. Comparison of monosomic individuals with one previous report of a similar deletion reveals marked phenotypic similarities.
A moderately retarded girl had a 47,XX,+der(18),t(9;18)(p24;q21)mat abnormality that was inherited from her mother, who had a 46,XX,t(9;18)(p24;q21) karyotype in most cells, and a minor cell line of 47,XX,+der(18),-t(9;18)(p24;q21). Her dysmorphic features--bilateral epicanthic folds, low-set, abnormal ears, low posterior hairline, clinodactyly of the 5th fingers, and broad great toes--were similar to those of other patients with an additional number 18 chromosome in which all or most of the long arm was missing, thus raising the possibility of a distinct syndrome.
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A two-year-old girl has the following features of the cri du chat syndrome: microcephaly, hypertelorism, downward slanting of the palpebral fissures, psychomotor retardation and a cat-like cry. She is only of five patients having the cat cry syndrome with 45 chromosomes. Her karyotype is 45,XX, -5, -14, +t(5; 14)(5qter leads to 5p11: : 14q11 leads to 14qter) with the translocation inherited from her mother and maternal grandmother, each of whom is the carrier of a balanced translocation 46,XX,t(5;14)(p11q11). Normal plasma activity for hexosaminidase B suggests the locus for this enzyme is not located in the delected segment of 5 p.
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A newly developed electrophoretic technique for human galactose-1-phosphate uridyl transferase confirms the multiple band patterns for the Duarte and Los Angeles variants. This represents the first confirmation for the Los Angeles variant. The observed frequencies of N, D, and LA types are similar to earlier reports for these variants.
A child with nasal hypoplasia, growth and developmental delay, and 18p--due to 14q/18q apparent dicentric fusion is reported. Review of ten previously reported patients with 18p--due to fusion translocations involving the long arm of chromosome 18 reveals clinical features ranging from arrhinencephaly to minimal dysmorphic changes and mild retardation. This spectrum of clinical expression is similar to that seen in patients with partial 18p deletions. Since the same range of clinical features is observed whether there is partial or apparent total deletion of 18p, it is suggested that only a distal segment of the short arm of chromosome 18 may be etiologically related to the clinical phenotype in the 18p--syndrome.
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