Case Reports
Partial duplication for the short arm of chromosome 2 : the 2p23 to pter syndrome
- PMID: 6979296
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Case Reports
Partial duplication for the short arm of chromosome 2 : the 2p23 to pter syndrome
Ann Genet.
1982.
Abstract
A 32 week, small for gestational age neonate was found to have partial duplication of the short arm of chromosome 2 (2p23 to pter). This duplication was due to a paternal balanced translocation [46,XY,t(2;20)(p23;q13)]. Peculiar facies with prominent eyes, low set ears and anteverted nostrils was apparent. A PDA with congestive heart failure occurred in the first weeks of life. The patient also had a marked diastasis recti, hemivertebrae, long tapering fingers and rocker bottom feet. The propositus was similar to the 14 cases of 2p duplication previously reported. It appears that duplication of the distal end of 2p (2p23 to pter), with or without deletion, should be classified as duplication (2p) syndrome.
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