Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11).

Human genetics ·Vol. 46 ·No. 2 ·1979-01-25 ·Pages 237-41

Fryns JP, Casaer P, Van den Berghe H

Abstract

A severely retarded child with multiple malformations was found to present a mosaic karyotype 46,XX, - 13,+t(13;13)(p11;q11)/46,XX,del(13)(p11), which probably originated as the result of a de novo 13/13 translocation in a parental gamete, followed by postzygotic fission of the translocation chromosome.

MeSH Terms

Abnormalities, Multiple/genetics Chromosome Banding Chromosomes, Human, 13-15 Female Humans Infant Intellectual Disability/genetics Karyotyping Mosaicism Translocation, Genetic Trisomy

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Fryns J P

Casaer P

Van den Berghe H

References (8)

8 references, click to expand

[Mosaic trisomy 13 with isochromosome: 46, XX-46, XX, 13-, 13 q:].
Ann Genet. 1972 Jun;15(2):111-4 PMID: 4537722
Reciprocal translocation versus centric fusion between two No. 13 chromosomes. A case of 46,XX,-13,+t(13;13)(p12;q13) and a case of 46,XY,-13,+t(13;13)(p12;p12).
Cytogenet Cell Genet. 1973;12(4):235-44 PMID: 4752865
Structure and inheritance of some heterozygous Robertsonian translocation in man.
J Med Genet. 1976 Oct;13(5):381-8 PMID: 1003449
Induced Robertsonian fusions and tandem translocations in mammalian cell cultures.
Cytogenet Cell Genet. 1978;21(1-2):86-98 PMID: 77213
Trisomy 13 mosaic presenting as cleft lip and palate.
Hum Hered. 1976;26(5):321-3 PMID: 992662
Trisomy 13 (D1) syndrome: studies on parental age, sex ratio, and survival.
J Pediatr. 1968 Aug;73(2):222-8 PMID: 5668372
Cleft lip and cleft palate in D trisomy.
Cleft Palate J. 1975 Jan;12(00):33-43 PMID: 1053960
Trisomy D1 syndrome with DqDq tandem translocation.
Am J Dis Child. 1971 Dec;122(6):535-7 PMID: 5156262

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00291927

Published

1979-01-25

Pages

237-41

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00291927 View journal details

Analysis Services

Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11).

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