Penelope W. Allderdice

Human Thymidine Kinase Gene Locus: Assignment to Chromosome 17 in a Hybrid of Man and Mouse Cells

The human chromosome retained in a hybrid clone derived from human cells and a moluse line deficiemt in thymidine kinase has the quinacrinefluorescence pattern characteristic of chromosome 17.

Quinacrine fluorescent karyotypes of human diploid and heteroploid cell lines

Quinacrine-fluorescence karyotypes were prepared on a series of human cell lines. WI-38 karyotypes were indistinguishable from those obtained from cultured XX blood leukocytes. WI-L2 lymphoblastoid ce

The cri du chat syndrome in adolescents and adults: clinical finding in 13 older patients with partial deletion of the short arm of chromosome No. 5(5p-).

This study of patients aged 12 to 55 years clarifies the course of development of the 5p- syndrome. The catlike cry disappears and new features appear including strabismus, thin face, dental malocclusion, short metacarpals or metatarsals, scoliosis, small wings of the ilia, pes planus, and prematurely gray hair. Mental retardation is severe but general health good. Two of the 13 patients died and brain findings at autopsy are reported.

Familial translocation involving chromosome 6, 14 and 20, identified by quinacrine fluorescence

SummaryA 4 year old girl with physical and mental retardation but few other abnormalities was found to have an unbalanced karyotype, 47,XX,6-,t(6q,20p?)+,t(14q,6q)+, resulting in partial trisomy-14. This arose by aberrant segregation of chromosomes during meiosis in her mother, who has a complex translocation involving chromosomes 6, 14 and 20.

Partial deletion of the short arm of chromosome no. 4(4p-): clinical studies in five unrelated patients.

Five patients are described with a partial deletion of the short arm of a chromosome No. 4, which was identified autoradiographically. The 4p- syndrome can be distinguished from the cri du chat (5p-) syndrome by the absence of a catlike cry and the presence of a lower birth weight, more marked psychomotor retardation, a flat beaked nose with a fish-shaped mouth, seizures, cleft palate, coloboma of the iris, preauricular or sacral dimple or sinus, hypospadias, midline scalp defect, underdeveloped dermal ridges on palm and sole, lower finger ridge count, and delayed bone maturation.

Method for locating the centromeres of mouse meiotic chromosomes and its application to T163H and T70H translocations

Abstract A method is described for rapid differential staining of the centromeric heterochromatin of mouse meiotic chromosomes. It has been used to analyse a trivalent involving the centric fusion translocation chromosome present in T163H heterozygotes and a quadrivalent involving the reciprocal translocation chromosomes present in T70H heterozygotes.

Detection of minute deletions in human karyotypes

Minute deletions of the B-group short arm have been demonstrated in five of six cases with clinical features suggestive of a deletion of chromosome 4 or 5, but with grossly normal chromosomes. A delet

Meiosis in Arthroderma benhamiae (=Trichophyton mentagrophytes)

The cytology of the meiotic process in Arthroderma benhamiae, Ajello & Cheng, is described. Nuclear fusion takes place in the penultimate cell of a typical crozier and synapsis between homologous chromosomes occurs while they are contracted. The haploid chromosome complement is 4, based on counts made during diakinesis and prometaphase.

Chromosome numbers in species of Nannizzia and Arthroderma.

A recent study of meiosis in Arthroderma benhamliae Ajello & Cheng, the ascigerous state of the dermatophyte Trichophyton mentagrophytes (Robin) Blanchard, demonstrated a haploid complement of 4 chromosomes (11). However, a different number of chromosomes or Feulgenpositive bodies has been observed during somatic karyokinesis in other dermatophytes and related keratinophilic fungi (3-7). This investigation was undertaken to determine the chromosome number of several parasitic and saprophytic Nannizzia and Arthroderma species.

Replication pattern and quinacrine fluorescence of the chromosomes of a CV-1-derived African green monkey cell line

When tritiated thymidine is incorporated into cells of a heteroploid CV-1-derived line near the end of the DNA synthetic period (S), the chromosomes are preferentially labeled in the centromeric region. After staining with quinacrine, the centromeric region of every chromosome shows minimal fluorescence, whereas the remainder of most chromosomes shows fairly bright fluorescence with distinctive banding patterns. In contrast to the end-of-S pattern, the distribution of grains over chromosomes labeled during the middle of S is consistent with random labeling. A marker chromosome with a long secondary constriction in the long arm near the centromere possesses the same labeling pattern, with late replication limited to the centromeric region and perhaps the adjacent region of the short arm. The secondary constriction region itself is not late replicating, and it fails to fluoresce after quinacrine staining.