Ring 11 chromosome (46,xx,r11(p15q25)).

Human genetics ·Vol. 36 ·No. 3 ·1977-05-10 ·Pages 345-50

Valente M, Muller H, Sparkes RS

Abstract

A girl has a stable chromosome 11, which does not reveal loss of any chromosomal material. She demonstrates small stature, mild retardation, behavior problems, mild abnormal EEG, prominent sole furrow, increased deep tendon reflexes and hypothyroidism; this latter condition may have contributed to her retardation.

MeSH Terms

Child Child Behavior Disorders/diagnosis,genetics Chromosome Aberrations/diagnosis Chromosome Disorders Chromosomes, Human, 6-12 and X Electroencephalography Female Growth Disorders/diagnosis,genetics Humans Hypothyroidism/diagnosis,genetics Intellectual Disability/diagnosis,genetics Karyotyping Reflex

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Valente M

Muller H

Sparkes R S

References (12)

12 references, click to expand

Observations of de novo clones of cytogentically aberrant cells in primary fibroblast cell strains from phenotypically normal women.
Am J Hum Genet. 1975 Mar;27(2):190-7 PMID: 1124763
Variegated translocation mosaicism in human skin fibroblast cultures.
Cytogenet Cell Genet. 1975;15(5):282-98 PMID: 1222585
Cytogenetically marked clones in human fibroblasts cultured from normal subjects.
Somatic Cell Genet. 1976 Jan;2(1):55-62 PMID: 1028160
A simple R banding technic.
Am J Hum Genet. 1975 Jan;27(1):110-7 PMID: 50737
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
Irregular phenotypic expression of ring chromosomes.
Humangenetik. 1975;26(3):193-8 PMID: 1132877
Ring chromosome 7 with variable phenotypic expression.
Cytogenet Cell Genet. 1973;12(1):40-8 PMID: 4145271
Ring chromosome 6 in a malformed boy.
Clin Genet. 1975 Nov;8(5):370-5 PMID: 1204234
[Ring chromosome 6. Karotype 46, XY, r (6)-45, XY,-6].
Ann Genet. 1974 Mar;17(1):29-35 PMID: 4546343
A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl.
Clin Genet. 1973;4(5):434-41 PMID: 4127395
Mental retardation and congenital malformations associated with a ring chromosome 6.
Clin Genet. 1975 Mar;7(3):192-6 PMID: 1139788

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00446287

Published

1977-05-10

Pages

345-50

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00446287 View journal details

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