1. Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.
- Author
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Peltekova IT, Hurteau-Millar J, and Armour CM
- Subjects
- Abnormalities, Multiple genetics, Cleft Lip genetics, Cleft Palate genetics, Comparative Genomic Hybridization, Female, Holoprosencephaly genetics, Humans, Infant, Abnormalities, Multiple pathology, Chromosome Deletion, Chromosomes, Human, Pair 10 genetics, Cleft Lip pathology, Cleft Palate pathology, Holoprosencephaly pathology, Kidney abnormalities
- Abstract
Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay, and genitourinary abnormalities. Here, we report on a female patient with a novel interstitial 5.54 Mb deletion at 10q24.31-q25.1. This patient had findings in common with a previously reported patient with an overlapping deletion, including renal anomalies and an orofacial cleft, but also demonstrated lobar holoprosencephaly and a Dandy-Walker malformation, features which have not been previously reported with 10q deletions. An analysis of the region deleted in our patient showed numerous genes, such as KAZALD1, PAX2, SEMA4G, ACTRA1, INA, and FGF8, whose putative functions may have played a role in the phenotype seen in our patient., (© 2014 Wiley Periodicals, Inc.)
- Published
- 2014
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