"Cri Du Chat " Due to a Ring-B (5) Chromosome

Rohde, RussellA.; Tompkins, Richard

doi:10.1016/s0140-6736(65)90609-4

Cited by 34 publications

(12 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It has beenshownthatindividuals with deletions involved in ring formation of a specific chromosome share many similar phenotypic characteristics. Rohde and Tompkins (1965) and Steele et al (1966) describe individuals with a ring B chromosome who were phenotypically similar to patients with the 5p-syndrome and to each other. Individuals with a D ring have features in common with 13q-patients (Allderdice et al, 1969) and share similar phenotypic features (Lejeune et al, 1968).…”

Section: Discussionmentioning

confidence: 98%

Ring chromosome 7 with variable phenotypic expression

Zackai

Breg²

1973

Cytogenet Genome Res

View full text Add to dashboard Cite

Two males with apparently identical rings of chromosome 7 and very different phenotypic features are presented. Patient 1 is severely retarded, has short stature, microcephaly, craniosynostosis, unilateral proptosis, ptosis, and microcornea, small phallus, first-degree hypospadias, and undescended testes. Patient 2 is of normal intelligence, and his only abnormalities are short stature and a small head. Study of lymphocytes at metaphase showed the same proportion of cells with the ring, 46, XY, r(7), and those without a ring, 45, XY,-7, in each case. Quinacrine fluorescence and Giemsa banding techniques showed all the bands of chromosome 7 to be present, suggesting little material missing as a result of ring formation. A similar degree of instability of the ring in each case was indicated by the frequency of abnormal cells at anaphase and telophase.

show abstract

Section: Discussionmentioning

confidence: 98%

Ring chromosome 7 with variable phenotypic expression

Zackai

Breg²

1973

Cytogenet Genome Res

View full text Add to dashboard Cite

show abstract

“…The only previously reported case with a ring B group chromosome showed the features of the cat-cry syndrome and, accordingly, the chromosome was assumed to be a No. 5 (Rohde and Tompkins, 1965). Short arm deletion of a No.…”

Section: Discussionmentioning

confidence: 99%

Congenital malformations associated with a ring 4 chromosome.

Carter¹,

Baker²,

Hayman³

1969

Journal of Medical Genetics

View full text Add to dashboard Cite

“…5, but an unusual karyotype, such as mosaicism (Zellweger et al, 1966;Antich et al, 1968), ring chromosomes (Rhode et al, 1965;Steele et al, 1966), a pericentric inversion (Catti and Schmid, 1971), and even an apparently normal karyotype ( M c G avin et al, 1967) are occasionally seen. Translocations seem to occur rather frequently in relatives of cri-du-chat patients (de C apoa et al, 1967).…”

mentioning

confidence: 99%

A 45, XX,5–,13–, dic+ karyotype in a case of cri-du-chat syndrome

Niebuhr¹

1972

Cytogenet Genome Res

View full text Add to dashboard Cite

A 45,XX,5–,13–, dic+ karyotype, verified by autoradiography and fluorescence studies, was found in a nine-year-old patient with typical clinical features of the cri-du-chat syndrome. A dicentric translocation chromosome was present in 34% of about 250 lymphocyte or fibroblast metaphases examined. Twisting in the intercentromeric region, leading to criss-cross separations, might explain the presence in 4% of the cells of a 46, XX,5p– karyotype. Other metaphases showed only one centromere on the translocation chromosome, which resembled a No. 1 in 49% of the cells and a No. 2 in 10%. Fluorescence studies indicated the presence of a centromere from a No. 5 and from a No. 13, respectively, on these monocentric chromosomes, and possible mechanisms leading to these structural alterations are discussed. Translocation chromosomes differing from these main types were seen in 3% of the metaphases. A fragile site on the long arm of one chromosome No. 16 was found in the father, a paternal aunt, and her son.

show abstract

"Cri Du Chat " Due to a Ring-B (5) Chromosome

Cited by 34 publications

References 1 publication

Ring chromosome 7 with variable phenotypic expression

Ring chromosome 7 with variable phenotypic expression

Congenital malformations associated with a ring 4 chromosome.

A 45, XX,5–,13–, dic+ karyotype in a case of cri-du-chat syndrome

Contact Info

Product

Resources

About