Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features

We report a case of an unbalanced cryptic telomeric translocation 46,XY,der(17),t(9;17)(q34.3;p13.3) in a boy with dysmorphic features and developmental delay. The proband had intrauterine growth retardation, postnatal short stature, and mild microcephaly. Magnetic resonance imaging showed incomplet...

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Bibliografske podrobnosti
Main Authors: Estop, A M, Mowery-Rushton, P A, Cieply, K M, Kochmar, S J, Sherer, C R, Clemens, M, Surti, U, McPherson, E
Format: Artigo
Jezik:Inglês
Izdano: 1995
Teme:
Brief Papers
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051710/
https://ncbi.nlm.nih.gov/pubmed/8558564
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