Langer-Giedion syndrome with interstitial 8q-deletion.

American journal of medical genetics ·Vol. 11 ·No. 3 ·1982-03-00 ·Pages 353-8

Zabel BU, Baumann WA

Abstract

We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter leads to q22::q234 leads to qter) as a cause of this syndrome.

MeSH Terms

Abnormalities, Multiple/genetics Bone and Bones/abnormalities Child Chromosome Aberrations/genetics Chromosome Banding Chromosome Deletion Chromosome Disorders Chromosomes, Human, 6-12 and X/ultrastructure Female Fingers/abnormalities Humans Intellectual Disability/genetics Karyotyping Nose/abnormalities Spine/abnormalities Syndrome

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Zabel B U

Baumann W A

Article Info

Journal

American journal of medical genetics

Abbr.

Am J Med Genet

ISSN

0148-7299

DOI

10.1002/ajmg.1320110312

Published

1982-03-00

Pages

353-8

Language

English

Region

United States

NLM ID

7708900

Subset

External Links

PubMed source DOI: 10.1002/ajmg.1320110312

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Langer-Giedion syndrome with interstitial 8q-deletion.

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