PMC5941596_01
The patient at the age of 3 years and 5 months (a, b) and 5 years and 1 month (c, d). Apparent features include low set ears, hypotelorism, downslanted palpebral fissures, epicanthus, depressed nasal bridge, low hanging columella, long philtrum, and thin upper lip vermilion. While short chin is present only at younger age, frontal bossing is more remarkable at older age
13039_2018_377_Fig1_HTML.jpg
PMC5941596_02_13039_2018_377_Fig1_HTML.jpg
Fig1
Midface retrusion and short chin observed previously were not present, but the forehead was even more prominent (Fig. 1c, d).
PMC5941596_02
The patient at the age of 3 years and 5 months (a, b) and 5 years and 1 month (c, d). Apparent features include low set ears, hypotelorism, downslanted palpebral fissures, epicanthus, depressed nasal bridge, low hanging columella, long philtrum, and thin upper lip vermilion. While short chin is present only at younger age, frontal bossing is more remarkable at older age
13039_2018_377_Fig1_HTML.jpg
PMC5941596_02_13039_2018_377_Fig1_HTML.jpg
Fig1
Midface retrusion and short chin observed previously were not present, but the forehead was even more prominent (Fig. 1c, d).
PMC5941596_03
a Partial G-banded karyotype of normal chromosomes 5 and the sSMC. b Scheme showing the banding pattern of 5p, the result of array CGH in the present patient, FISH probes for the cri-du-chat region employed in our study (5p15.31 (FLJ25076) in green, 5p15.2 (CTNND2) in red), disease-causing genes discussed (orange), the extent of 5p amplification in the present patient (thick dark blue bar) and previously published tetrasomies (inv dups, isochromosomes, an interstitial triplication; thin dark blue bars) and trisomies (terminal and interstitial duplications, unbalanced translocations; thin light blue bars). Uncertain ranges in published patients are hatched. A megabase scale bar is also shown. c FISH examination of normal chromosomes 5 and the sSMC. See (b) for 5p probe colors. The 5q35 (NSD1) probe is in green. The pattern of signals on the sSMC indicates its structure of inv dup of distal 5p
13039_2018_377_Fig2_HTML.jpg
PMC5941596_03_13039_2018_377_Fig2_HTML.jpg
Fig2
The patient had a mosaic sSMC and karyotype mos 47,XY,+mar[10]/46,XY[28] (Fig. 2a). Parental karyotypes were normal and the sSMC occurred de novo. aCGH analysis of the patient revealed gain of material in 5p15.33p15.1, in the region chr5:22149_15009591 (hg19) (Fig. 2b). FISH analysis confirmed the origin of the sSMC from 5p15.33p15.1 and revealed its inv dup structure (Fig. 2c), with the final karyotype mos 47,XY,+dup(5)(pter p15.1::p15.1   pter)dn[10]/46,XY[28].