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PMID: 50276 Published · ppublish English Journal Article

Ring chromosome 15:r(15). Identification by R banding.

Humangenetik ·Vol. 27 ·No. 3 ·1975-00-00 ·Pages 259-62

Stoll C, Juif JG, Luckel JC, Lausecker C

Abstract

Upon investigating the mental retardment of a small girl who was not dysmorphic, a ring chromosome D was discovered. Thermic moderate denaturation enabled us to confirm it as being an r(15). The r(15) syndrome scarcely affects the phenotype. On the other hand, height is consistently reduced.

MeSH Terms
Child, Preschool Chromosome Aberrations Chromosomes, Human, 13-15 Cytogenetics Female Growth Disorders/genetics Humans Karyotyping Staining and Labeling
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Stoll C
Juif J G
Luckel J C
Lausecker C
References (9)
9 references, click to expand
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    Ann Genet. 1971 Mar;14(1):33-40 PMID: 5314292
  2. Deletion of the long arms of the Y chromosome with normal male development and intelligence.
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  3. Absent thumbs with a ring D2 chromosome: a new deletion syndrome.
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    C R Acad Sci Hebd Seances Acad Sci D. 1971 May 17;272(20):2638-40 PMID: 4104656
  5. A ring chromosome (46,XY,13r) occurring in a family with a D-D translocation 13-,14-, t(13q 14q).
    Ann Genet. 1969 Mar;12(1):51-6 PMID: 5306712
  6. [The Dr phenotype: a study of threee cases with a ring D chromosome].
    Ann Genet. 1968 Jun;11(2):79-87 PMID: 5303427
  7. CYTOGENETIC STUDIES IN MENTAL RETARDATION.
    Proc Aust Assoc Neurol. 1963 May;72:41-2 PMID: 14158381
  8. [The Dr syndrome. Study of a further case (46, XX, 14r)].
    Ann Genet. 1971 Mar;14(1):23-31 PMID: 5314291
  9. [Ring 15 chromosome: r(15). Identification by controlled denaturation].
    Ann Genet. 1972 Dec;15(4):267-70 PMID: 4539486
Article Info
Journal
Humangenetik
Abbr.
Humangenetik
ISSN
0018-7348
Published
1975-00-00
Pages
259-62
Language
English
Region
Germany
NLM ID
7607154
PMCID
PMC8334144
Subset
IM
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