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Article

A female infant with duplication of chromosome 2q33 to 2q37.3.

Clinical dysmorphology - 1 Oct 2003

Slavotinek Anne M, Boles Debra, Lacbawan Felicitas

Abstract excerpt

We report a 13-month-old female child with a de-novo inverted duplication of chromosome 2q extending from 2q33 to 2q37.3. She had microcephaly and craniofacial dysmorphism compatible with previously reported cases with overlapping duplications of chromosome 2q. Although a facial phenotype for pure partial trisomy 2q3 has been described, some controversy still exists regarding possible band specificity for the...

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PMID: 14564213
DOI: 10.1097/00019605-200310000-00008

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