Ann Lab Med.  2020 Sep;40(5):435-437. 10.3343/alm.2020.40.5.435.

The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay

• Park S
• Jeon BR
• Lee YK
• Ki CS
• Jang MA

• KMID: 2502578
• DOI: http://doi.org/10.3343/alm.2020.40.5.435

Figure

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  Fig. 1 Genetic study of a patient with developmental delay. (A) An interstitial deletion in 4p was revealed by conventional G-banding chromosome analysis. (B) FISH analysis revealed two copies of FGFR3 (red) on 4p16.3. The green signal indicates IGH (14q32). (C) Chromosomal microarray showed a 12-Mb deletion at 4p15.31p15.1. The deletion is proximal to the typical WHS region. Abbreviations: FISH, Fluorescence in situ hybridization; WHS, Wolf-Hirschhorn syndrome.

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