Proximal trisomy 1q in a girl with devel
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Furforo, Lilian; Rittler, Mónica; Slavutsky, Irma R.
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Article
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1996
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John Wiley and Sons
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English
⚖ 402 KB
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We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short neck, a heart defect, and unilateral renal agenesis. Cytogenetic analysis showed a proximal tandem duplication of the long arm of chromosome