8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I.

Human genetics ·Vol. 74 ·No. 2 ·1986-10-00 ·Pages 188-9

Fryns JP, Van den Berghe H

Abstract

In the present report we present the first example of a small interstitial 8q24.12 deletion in a patient with trichorhinophalangeal syndrome type I.

MeSH Terms

Child Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 8 Exostoses, Multiple Hereditary/genetics Genetic Markers Humans Karyotyping Male

Chemicals

Genetic Markers

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Fryns J P

Van den Berghe H

References (9)

9 references, click to expand

Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).
Clin Genet. 1980 Aug;18(2):142-6 PMID: 6254701
Langer-Giedion syndrome and deletion of the long arm of chromosome 8.
Hum Genet. 1981;58(2):231-2 PMID: 6974680
Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13).
Hum Genet. 1983;64(1):90-3 PMID: 6336324
Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23.
Hum Genet. 1983;64(2):194-5 PMID: 6885060
The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.
Ann Genet. 1985;28(4):224-7 PMID: 3879433
Chromosome deletion and multiple cartilaginous exostoses.
Eur J Pediatr. 1980 Mar;133(2):163-6 PMID: 6965910
Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies.
Am J Dis Child. 1983 May;137(5):444-8 PMID: 6601906
Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21).
Hum Genet. 1979 Apr 17;48(1):127-30 PMID: 457127
Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23.
Hum Genet. 1982;62(3):183-7 PMID: 6984841

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00282091

Published

1986-10-00

Pages

188-9

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00282091 View journal details

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8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I.

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