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A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia

✍ Scribed by Jill K. Northup; Reuben Matalon; Lillian H. Lockhart; Judy C. Hawkins; Gopalrao V.N. Velagaleti

Book ID
116433384
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
686 KB
Volume
54
Category
Article
ISSN
1769-7212

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## Abstract We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array‐based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (MR), psychomotor developmental delay,