Format

Send to

Choose Destination
Am J Med Genet A. 2017 Jun;173(6):1611-1619. doi: 10.1002/ajmg.a.38231. Epub 2017 Apr 21.

Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

Author information

1
Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario.
2
Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec.
3
Department of Pediatrics, McGill University, Montreal, Quebec.
4
Research Center, Centre Hospitalier Universitaire Sainte-Justine, Montreal, Quebec.
5
Department of Pediatrics, Universite de Montreal, Montreal, Quebec.
6
Department of Neurosciences, Universite de Montreal, Montreal, Quebec.
7
Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario.
8
Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario.
9
Faculty of Medicine, University of Ottawa, Ottawa, Ontario.
10
Department of Medical Imaging, Children's Hospital of Eastern Ontario, Ottawa, Ontario.
11
Department of Human Genetics, McGill University, Montreal, Quebec.

Abstract

Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild-to-moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region. These results point to a novel gene locus associated with ataxia and highlight the variability of the clinical presentation of patients with deletions of this region.

KEYWORDS:

10q monosomy; CNV; ataxia; hyperemia

PMID:
28432728
DOI:
10.1002/ajmg.a.38231
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center