A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features

Article ID	Journal	Published Year	Pages	File Type
5907299	Gene	2012	4 Pages	PDF

Abstract

âº A pure chromosomal deletion of 8p11.21 was identified on a female patient with hereditary spherocytosis. âº The deletion identified in this study is located on the most proximal end of 8p. âº The patient exhibited mild developmental delay and distinctive facial findings.

Keywords

FGFR1 mega base Occipitofrontal circumference MCV MCHC MCH nAChRs OFC BAC Hereditary spherocytosis MRI standard deviation Magnetic resonance imaging Mean corpuscular volume contiguous gene syndrome Fish mean corpuscular hemoglobin Mean corpuscular hemoglobin concentration follicle stimulating hormone luteinizing hormone FSH fluorescent in-situ hybridization bacterial artificial chromosome nicotinic acetylcholine receptors

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Genetics

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A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features

Authors

Kazushi Miya, Keiko Shimojima, Midori Sugawara, Shino Shimada, Hiroyuki Tsuri, Tomomi Harai-Tanaka, Sachiko Nakaoka, Hirokazu Kanegane, Toshio Miyawaki, Toshiyuki Yamamoto,