Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).

Clinical genetics ·Vol. 18 ·No. 2 ·1980-08-00 ·Pages 142-6

Pfeiffer RA

Abstract

Deletion of the long arm of chromosome 8 was found in a mentally retarded boy with typical features of the Langer-Giedion syndrome (TRP syndrome type II). Additional malformations were colobomata of the iris and partial syndactyly of the 4th and 5th fingers.

MeSH Terms

Abnormalities, Multiple/diagnostic imaging,genetics Bone Neoplasms/genetics Child Chondroma/genetics Chromosome Deletion Chromosomes, Human, 6-12 and X Humans Intellectual Disability/genetics Iris/abnormalities Male Radiography Syndactyly/genetics Syndrome

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Pfeiffer R A

Article Info

Journal

Clinical genetics

Abbr.

Clin Genet

ISSN

0009-9163

DOI

10.1111/j.1399-0004.1980.tb01025.x

Published

1980-08-00

Pages

142-6

Language

English

Region

Denmark

NLM ID

0253664

Subset

External Links

PubMed source DOI: 10.1111/j.1399-0004.1980.tb01025.x View journal details

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Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).

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