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PMID: 500090 Published · ppublish English Case Reports Journal Article

Ring chromosome 15 syndrome.

Human genetics ·Vol. 51 ·No. 1 ·1979-09-02 ·Pages 43-8

Fryns JP, Timmermans J, Hondt FD, François B, Emmery L, van den Berghe H

Abstract

Two new cases of ring chromosome 15 are reported. A review of the nine cases described in the literature shows that ring chromosomes 15 are associated with a rather uniform phenotype characterized by slight to moderate mental retardation, marked pre- and postnatal growth failure, triangular face, and short hands and feet.

MeSH Terms
Abnormalities, Multiple/diagnosis,genetics Child Chromosome Aberrations Chromosomes, Human, 13-15 Diagnosis, Differential Female Growth Disorders/diagnosis,genetics Humans Karyotyping
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Fryns J P
Timmermans J
Hondt F D
François B
Emmery L
van den Berghe H
References (8)
8 references, click to expand
  1. [Observation of the 13-15 chromosome group in a ring (46,XY,15r)].
    Humangenetik. 1971;11(4):295-9 PMID: 5550594
  2. 46,XX/46,XX,r(15) mosaiciam: report of a case.
    J Med Genet. 1977 Feb;14(1):63-5 PMID: 839504
  3. Ring chromosome 15 in child with a minor dysmorphism of phenotype.
    Hum Genet. 1976 Jul 27;33(2):187-8 PMID: 939571
  4. Ring chromosome 15:r(15). Identification by R banding.
    Humangenetik. 1975;27(3):259-62 PMID: 50276
  5. [The r(15) syndrome (ring chromosome 15). Description of a case].
    Minerva Pediatr. 1977 Nov 17;29(36):2163-8 PMID: 600224
  6. [Ring chromosome 15 in a child (author's transl)].
    Wien Klin Wochenschr. 1978 Jan 6;90(1):22-5 PMID: 625984
  7. [Ring 15 chromosome: r(15). Identification by controlled denaturation].
    Ann Genet. 1972 Dec;15(4):267-70 PMID: 4539486
  8. Analysis of banding patterns and mosaic configurations in a case of ring chromosome 15.
    Hum Genet. 1978 Apr 24;41(3):289-99 PMID: 649157
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00278290
Published
1979-09-02
Pages
43-8
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00278290 View journal details
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