Article
A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty.
American journal of medical genetics. Part A - 1 Feb 2011
Hiraki Yoko, Nishimura Akira, Hayashidani Michiko, Terada Yoshiko, Nishimura Gen, Okamoto Nobuhiko, Nishina Sachiko, Tsurusaki Yoshinori, Doi Hiroshi, Saitsu Hirotomo, Miyake Noriko, Matsumoto Naomichi
Abstract excerpt
Proximal interstitial deletions involving 20q11-q12 are very rare. Only two cases have been reported. We describe another patient with 20q11.21-q12 deletion. We precisely mapped the 6.5-Mb deletion and successfully determined the deletion landmarks at the nucleotide level. Common clinical features among the three cases include developmental delay, intractable feeding difficulties with gastroesophageal reflux, and...
Topics
- Abnormalities, Multiple
- Chromosome Deletion
- Chromosomes, Human, Pair 20
- DNA Primers
- Developmental Disabilities
- Humans
- Hypokinesia
- In Situ Hybridization, Fluorescence
- Infant