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Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X
- Source :
- American Journal of Medical Genetics Part A. 176:450-454
- Publication Year :
- 2017
- Publisher :
- Wiley, 2017.
-
Abstract
- Mesomelic and rhizo-mesomelic dysplasias are a group of disorders characterized by abnormal shortening of the limbs. One of the most common causes of mesomelic shortening is the loss of the transcription factor SHOX. In this clinical report, we present a patient who in addition to mesomelic shortening has severe rhizomelic shortening and developmental delay. Karyotyping revealed a recombinant X chromosome in which the region distal to Xp22.33 (where SHOX is found) was replaced with material from Xq28. Included in the region distal to Xq28 is the gene MECP2 and this patient presents with features of MECP2 duplication syndrome. We find that this patient has skeletal features not typical with the loss of SHOX that are likely explained by the rearrangement of the X chromosome. Further delineation of this rearrangement may allow for the identification of additional genetic mechanisms critical for the development of the limbs.
- Subjects :
- 0301 basic medicine
congenital, hereditary, and neonatal diseases and abnormalities
Methyl-CpG-Binding Protein 2
Developmental Disabilities
MECP2 duplication syndrome
Dwarfism
030105 genetics & heredity
Biology
MECP2
03 medical and health sciences
0302 clinical medicine
Short Stature Homeobox Protein
030225 pediatrics
Chromosome Duplication
Gene duplication
Genetics
medicine
Humans
Femur
In Situ Hybridization, Fluorescence
Genetics (clinical)
X chromosome
Bone Diseases, Developmental
Chromosomes, Human, X
Rhizomelia
Infant
Karyotype
Humerus
medicine.disease
Xq28
Karyotyping
Female
Chromosome Deletion
Subjects
Details
- ISSN :
- 15524833 and 15524825
- Volume :
- 176
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....0c23b3843aec41d8129731cad0ff2e3b
- Full Text :
- https://doi.org/10.1002/ajmg.a.38570