Article
Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.
European journal of medical genetics - 1 Jul 2013
Frühmesser Anne, Erdel Martin, Duba Hans-Christoph, Fauth Christine, Amberger Albert, Utermann Gerd, Zschocke Johannes, Kotzot Dieter
Abstract excerpt
De novo combined duplications/inversions are very rare chromosomal rearrangements. For chromosome 7 just some dozen cases of duplications of various parts of the long arm have been published. We report on a 12-year-old boy with muscular hypotonia, global developmental delay, short stature, and various facial dysmorphism including frontal bossing, temporal narrowing, slightly down-slanting palpebral fissures, a...
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