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PMID: 511176 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

De novo 13q paracentric inversion in a boy with cleft palate and mental retardation.

Human genetics ·Vol. 52 ·No. 2 ·1979-11-00 ·Pages 211-5

Riccardi VM, Holmquist GP

Abstract

A paracentric inversion in chromosome 13, inv(13)(q12q22), is described in a boy with mild mental retardation and multiple minor anomalies. Bromodeoxyuridine-late replication studies showed no changes in the replication pattern of bands in the abnormal chromosome 13. The relation between the proband's phenotype and his inv(13) is unclear.

MeSH Terms
Child, Preschool Chromosome Aberrations/genetics Chromosome Banding Chromosome Disorders Chromosome Inversion Chromosomes, Human, 13-15 Cleft Palate/genetics Humans Intellectual Disability/genetics Male
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Riccardi V M
Holmquist G P
References (9)
9 references, click to expand
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    Science. 1976 Mar 26;191(4233):1268-70 PMID: 1257746
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    Nature. 1977 Dec 8;270(5637):513-4 PMID: 593369
  6. Apparently balanced de novo translocations in patients with abnormal phenotypes: report of 6 cases.
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    Hereditas. 1977;85(2):249-50 PMID: 885733
  8. [Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].
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  9. Paracentric inversion of a human chromosome 7.
    Hum Genet. 1976 Jan 28;31(1):1-7 PMID: 1248816
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1979-11-00
Pages
211-5
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source View journal details
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