Article
Camptodactyly and the 22q11.2 deletion syndrome.
American journal of medical genetics. Part A - 1 Feb 2017
Couser Natario L, Pande Chetna K, Walsh Jonathan M, Tepperberg James, Aylsworth Arthur S
Abstract excerpt
We describe a 5-day-old male with minor facial anomalies, a congenital laryngeal web, severe laryngomalacia, and prominent fixed flexion of the proximal interphalangeal joints of digits 2 through 5 bilaterally. A whole genome SNP microarray analysis identified a 2.55 Mb interstitial deletion of 22q11.21, typical of that seen in the DiGeorge and Velocardiofacial syndromes. A review of the literature identifies 10...
Topics
- Abnormalities, Multiple
- DiGeorge Syndrome
- Genetic Association Studies
- Hand Deformities, Congenital
- Humans
- Infant, Newborn
- Male
- Oligonucleotide Array Sequence Analysis
- Phenotype
- Physical Examination
- Polymorphism, Single Nucleotide