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A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia

✍ Scribed by S. Gimelli; P. Makrythanasis; C. Stouder; S.E. Antonarakis; A. Bottani; F. Béna


Book ID
116433313
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
536 KB
Volume
54
Category
Article
ISSN
1769-7212

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## Abstract We describe the cytogenetic diagnosis using BAC‐ and oligonucleotide microarrays of a 16‐year‐old Laotian‐American female, who first presented at 2½ years of age with microcephaly, developmental retardation, and skeletal abnormalities of the upper limb including mild syndactyly of the s