Irregular phenotypic expression of ring chromosomes.

Humangenetik ·Vol. 26 ·No. 3 ·1975-00-00 ·Pages 193-8

Zdansky R, Andrle M, Bühler E, Tsuchimoto T, Mayr WR, Rett A

Abstract

2 patients with 13- and C9-rings are reported. On reviewing the phenotypical features of the published ring carriers and comparing them with our results we do not find any characteristic similarities. This can be explained by cytogenetical and biological findings. We are therefore inclined to reject the existence of clear-cut ring chromosome syndromes.

MeSH Terms

Child Child, Preschool Chromosome Aberrations Chromosomes, Human, 13-15 Chromosomes, Human, 6-12 and X Cytogenetics Female Humans Male Phenotype

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Zdansky R

Andrle M

Bühler E

Tsuchimoto T

Mayr W R

Rett A

References (14)

14 references, click to expand

Reexamination of a family with a t(13q14q) and a ring D(13) child.
Ann Genet. 1973 Sep;16(3):199-202 PMID: 4127869
Comparative behavior of ring chromosomes.
Am J Hum Genet. 1970 May;22(3):304-18 PMID: 5445002
Developmental abnormalities associated with a ring chromosome 6.
J Med Genet. 1973 Sep;10(3):299-303 PMID: 4774541
[Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)].
Klin Padiatr. 1973 May;185(3):187-91 PMID: 4795572
Ring chromosome 7 with variable phenotypic expression.
Cytogenet Cell Genet. 1973;12(1):40-8 PMID: 4145271
A group-C ring chromosome in a mentally deficient male.
J Med Genet. 1971 Jun;8(2):227-30 PMID: 5096546
Ring chromosome D (13) associated with multiple congenital malformations.
Ann Genet. 1973 Sep;16(3):157-66 PMID: 4543204
Compendium on shortness of stature.
J Pediatr. 1967 Mar;70(3):463-519 PMID: 6018790
[Hereditary mosaicism: normal-trisomy D, chromosome fragility and new type of mosaicism with D ringformation in descendents].
Fortschr Med. 1972 Jul 6;90(19):748-52 PMID: 5073851
Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9.
Nat New Biol. 1972 Jul 26;238(82):122-4 PMID: 4114702
Autosomal rings and variable phenotypes.
Humangenetik. 1973 Mar 23;18(1):99-100 PMID: 4721345
[Hereditary chromosomal mosaicism and its importance for the affected family].
Wien Med Wochenschr. 1971 Jan 23;121(4):59-63 PMID: 4252342
A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl.
Clin Genet. 1973;4(5):434-41 PMID: 4127395
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Exp Cell Res. 1972 Jul;73(1):239-42 PMID: 4113942

Article Info

Journal

Humangenetik

Abbr.

Humangenetik

ISSN

0018-7348

DOI

10.1007/BF00281453

Published

1975-00-00

Pages

193-8

Language

English

Region

Germany

NLM ID

7607154

Subset

External Links

PubMed source DOI: 10.1007/BF00281453

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Irregular phenotypic expression of ring chromosomes.

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