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KMID : 1100720130330010069
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Annals of Laboratory Medicine
2013 Volume.33 No. 1 p.69 ~ p.74
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Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
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Kim Yeo-Hyang
Kim Heung-Sik
Ryoo Nam-Hee
Ha Jung-Sook
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Abstract
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We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.
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KEYWORD
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Trisomy 4p, Ttrisomy 14q, Translocation (4, 14)
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