Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 155A, Issue 2, Pages 409-414Publisher
WILEY
DOI: 10.1002/ajmg.a.33818
Keywords
20q interstitial deletion; abnormal hands and feet; retinal dysplasia; feeding difficulty
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Funding
- Japan Society for the Promotion of Science (JSPS)
- Ministry of Health, Labour and Welfare
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Scientific Research
- Grants-in-Aid for Scientific Research [22591975] Funding Source: KAKEN
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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 facial dysmorphism including triangular face, hypertelorism, and hypoplastic alae nasi, indicating that the 20q11.2-q12 deletion can be a clinically recognizable syndrome. This is also supported by the fact that the three deletions overlap significantly. In addition, unique features such as arthrogryposis/fetal akinesia (hypokinesia) deformation and retinal dysplasia are recognized in the patient reported herein. (C) 2011 Wiley-Liss, Inc.
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