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PMID: 939570 Published · ppublish English Case Reports Journal Article Research Support, U.S. Gov't, P.H.S.

Parental origin of a ring 13 chromosome in a female with multiple anomalies.

Human genetics ·Vol. 33 ·No. 2 ·1976-07-27 ·Pages 181-6

Magenis RE, Wyandt HE, Overton KM, Macfarlane J

Abstract

A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q--syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated loss of the most distal band of the long arm (13q34) and possible partial loss of the next adjacent long arm band (13q33). The short arm (13q11) was present but the stalk (13p12) and satellite (13p13) regions appeared to be missing.

MeSH Terms
Abnormalities, Multiple/genetics Adult Chromosome Aberrations/genetics Chromosome Deletion Chromosome Disorders Chromosomes, Human, 13-15 Female Humans Male Pedigree Phenotype
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Magenis R E
Wyandt H E
Overton K M
Macfarlane J
References (8)
8 references, click to expand
  1. Ring chromosome 13 syndrome.
    Clin Genet. 1975 Mar;7(3):203-8 PMID: 1139790
  2. Reexamination of a family with a t(13q14q) and a ring D(13) child.
    Ann Genet. 1973 Sep;16(3):199-202 PMID: 4127869
  3. The behavior of ring chromosome 13.
    Humangenetik. 1974;24(3):161-71 PMID: 4140830
  4. Irregular phenotypic expression of ring chromosomes.
    Humangenetik. 1975;26(3):193-8 PMID: 1132877
  5. Exclusion gene mapping utilizing patients with chromosome imbalance: the HL-A system as a prototype.
    Humangenetik. 1975;27(2):91-109 PMID: 1150239
  6. Ring chromosome D (13) associated with multiple congenital malformations.
    Ann Genet. 1973 Sep;16(3):157-66 PMID: 4543204
  7. Ring chromosome 13 in a polymalformed anencephalic.
    Humangenetik. 1975;27(1):63-6 PMID: 1140815
  8. Malformative syndrome with ring chromosome 13.
    Humangenetik. 1974;24(3):235-40 PMID: 4140834
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1976-07-27
Pages
181-6
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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