Abstract |
Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism; hirsutism; internal organ anomalies, including diaphragmatic hernia, and limb defects. While causative mutations in three genes have been identified the etiology of a significant number of cases remains unknown. We report on a child with an 8p23.1 deletion with features of CdLS and congenital diaphragmatic hernia. We review cases with cytogenetic anomalies involving 8p23.1, discuss a potential relationship between 8p23.1 deletions and CdLS and suggest a novel candidate gene for CdLS-Tankyrase 1.
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Authors | Gareth Baynam, Jack Goldblatt, Ian Walpole |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 146A
Issue 12
Pg. 1565-70
(Jun 15 2008)
ISSN: 1552-4833 [Electronic] United States |
PMID | 18470924
(Publication Type: Case Reports, Journal Article, Review)
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Copyright | 2008 Wiley-Liss, Inc. |
Chemical References |
- Tankyrases
- TNKS protein, human
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Topics |
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 8
(genetics)
- De Lange Syndrome
(diagnosis, genetics)
- Hernia, Diaphragmatic
(diagnosis, genetics)
- Hernias, Diaphragmatic, Congenital
- Humans
- Infant
- Karyotyping
- Male
- Tankyrases
(genetics)
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