Further case of microdeletion of 8q24 with phenotype overlapping Langer–Giedion without TRPS1 deletion

Langer–Giedion syndrome results from a microdeletion at 8q24.1 encompassing the EXT1 and the adjacent TRPS1 gene. We report on a boy with an oligo array‐cgh characterized small microdeletion involving EXT1 alone but with some features of Langer–Giedion syndrome suggesting a functional disturbance of...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2008-06, Vol.146A (12), p.1587-1592
Main Authors: McBrien, Jacqueline, Crolla, John Anthony, Huang, Shuwen, Kelleher, Jerry, Gleeson, John, Lynch, Sally Ann
Format: Article
Language:English
Subjects:
8q24.1 deletion
Adipose Tissue - abnormalities
Biological and medical sciences
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 8 - genetics
Classical genetics, quantitative genetics, hybrids
DNA-Binding Proteins - genetics
EXT1
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Human
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Langer-Giedion Syndrome - diagnosis
Langer-Giedion Syndrome - diagnostic imaging
Langer-Giedion Syndrome - genetics
Male
Medical genetics
Medical sciences
N-Acetylglucosaminyltransferases - genetics
Oligonucleotide Array Sequence Analysis
Phenotype
Radiography
toe pads
Toes - abnormalities
Transcription Factors - genetics
TRPS1
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Summary:Langer–Giedion syndrome results from a microdeletion at 8q24.1 encompassing the EXT1 and the adjacent TRPS1 gene. We report on a boy with an oligo array‐cgh characterized small microdeletion involving EXT1 alone but with some features of Langer–Giedion syndrome suggesting a functional disturbance of TRPS1. This boy, in addition to a mild Langer–Giedion like phenotype, also had some unusual features including prominent toe pads and fat pads on the soles of his feet similar to those described in Pierpont syndrome. © 2008 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32347