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PMID: 1836105 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.

American journal of human genetics ·Vol. 49 ·No. 6 ·1991-12-00 ·Pages 1197-206

Lüdecke HJ, Johnson C, Wagner MJ, Wells DE, Turleau C, Tommerup N, Latos-Bielenska A, Sandig KR, Meinecke P, Zabel B

Abstract

The Langer-Giedion syndrome (LGS), which is characterized by craniofacial dysmorphism and skeletal abnormalities, is caused by a genetic defect in 8q24.1. We have used 13 anonymous DNA markers from an 8q24.1-specific microdissection library, as well as c-myc and thyroglobulin gene probes, to map the deletion breakpoints in 16 patients with LGS. Twelve patients had a cytogenetically visible deletion, two patients had an apparently balanced translocation, and two patients had an apparently normal karyotype. In all cases except one translocation patient, loss of genetic material was detected. The DNA markers fall into 10 deletion intervals. Clone L48 (D8S51) defines the shortest region of deletion overlap (SRO), which is estimated to be less than 2 Mbp. Three clones--p17-2.3 EE (D8S43), L24 (D8S45), and L40 (D8S49) - which flank the SRO recognize evolutionarily conserved sequences.

MeSH Terms
Bacteriophage lambda/genetics Base Sequence Biological Evolution Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 8 Cloning, Molecular Genomic Library Humans Infant Langer-Giedion Syndrome/genetics Molecular Sequence Data Restriction Mapping
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Lüdecke H J
Institute für Humangenetik, Universitätklinikum, Essen, Germany.
Johnson C
Wagner M J
Wells D E
Turleau C
Tommerup N
Latos-Bielenska A
Sandig K R
Meinecke P
Zabel B
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1991-12-00
Pages
1197-206
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1686450
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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