PMC5572599_01
(a) Facial features include the high anterior hairline, a triangular face, a short chin, widely spaced eyes, and prominent nasal bridge. The dry, scaly skin was observed in (b) the pretibial areas and (c) the abdomen.
CRIG2017-9086408.001.jpg
PMC5572599_01_CRIG2017-9086408.001.jpg
fig1
On exam, he was found to have a high anterior hairline, a triangular face, a short chin, widely spaced eyes, prominent nasal bridge, and conical teeth (Figure 1). The presence of dry, scaly skin on his abdomen and pretibial areas (Figure 1) was confirmed after receiving the results of the array.
(a) Affymetrix CytoScan chromosomal microarray analysis detected a 1.7 Mb deletion at Xp22.31 (6,458,939-8,135,644, genome build hg 19) in our male patient. (b) UCSC genome browser image showing the Xp22.31 deletion. The deleted interval contains six known genes (PUDP, STS, MIR4767, VCX, PNPLA4, and MIR651).
CRIG2017-9086408.002.jpg
PMC5572599_01_CRIG2017-9086408.002.jpg
fig2
Chromosomal microarray (CMA), performed at the Mayo Clinic (Rochester, MN), demonstrated a 1.7 Mb deletion at Xp22.31 (Figure 2), which included 6 genes; STS, pseudouridine 5'-phosphatase (PUDP), microRNA 4767 (MIR4767), variable charge, X-linked (VCX), patatin-like phospholipase domain containing 4 (PNPLA4), and microRNA 651 (MIR651), which was consistent with the diagnosis of XLI. CMA was performed using both copy number and single-nucleotide polymorphism (SNP) probes on a whole genome array (CytoScan HD platform) (Affymetrix).