PMC8585933_01
One year old.
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F1
Activity, Respiration) scores were 9 at the 1st min and 10 at 5th min. After delivery, the neonate did not present major dysmorphisms or hypotonia; normal growth and development were reported (Figures 1, 2).
Two years old.
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F2
Mild dysmorphic facial features were detectable by facial photos before chemo-radiotherapy (long eyelashes, bulbous nose, large and prominent ears) (Figure 2) and due to the severe late effects (Figure 4) the child underwent genetic analysis.
PMC8585933_02
(A) High-power view illustrates AT/RT cells of the patient (hematoxylin and eosin staining). (B) Rhabdoid cells negative for SMARCB1 protein (immunohistochemistry).
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F3
Histological analysis of the tumor showed a population of cells with rhabdoid features (Figure 3A). Immunohistochemistry showed the absence of the expression of SMARCB1 protein (Figure 3B), at the same time the expression of EMA and focal of AML and SYN was observed (data not shown).
PMC8585933_03
PMC8585933_04
PMC8585933_05
PMC8585933_06
PMC8585933_07
PMC8585933_08
Two years old.
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F2
Mild dysmorphic facial features were detectable by facial photos before chemo-radiotherapy (long eyelashes, bulbous nose, large and prominent ears) (Figure 2) and due to the severe late effects (Figure 4) the child underwent genetic analysis.
Eight years old.
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F4
Mild dysmorphic facial features were detectable by facial photos before chemo-radiotherapy (long eyelashes, bulbous nose, large and prominent ears) (Figure 2) and due to the severe late effects (Figure 4) the child underwent genetic analysis.
Results of array-CGH analysis. Zoom view of long arm of chromosome 22 shows a 2,4 Mb deletion at 22q13.32q13.33 spanning from position 48746241 bp to the telomere.
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F5
Array-CGH (Whole-genome 60 K Agilent array, Human Genome CGH Microarray, Agilent Technologies, Santa Clara, CA, USA) revealed a de-novo chromosomal rearrangement: arr[GRCh37] 22q13.32q13.33(48746241_tel)x1 dn involving a partial deletion of long arm of chromosome 22 that is extended for 2,4 Mb from nucleotide 48.746.241 to the telomere (Figure 5).
(A) Q-banded karyotype showing ring chromosome 22. (B) FISH analysis with 14/22 centromeric probe and specific SHANK3 probe (green and red signals, respectively). The arrow indicates the normal chromosome 22, the arrowhead shows the absence of SHANK3 signal on the ring chromosome 22.
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F6
Cytogenetic analysis using Q-banding techniques at the 400 bands of resolution revealed a 46, XY, r22(p11.2;q13.32)dn karyotype in the 30 metaphase cells examined (Figure 6A). FISH studies were performed using SureFISH probe Agilent (Santa Clara, CA, USA) 22q13.33 SHANK3 and chromosome 14/22 alpha satellite probe Acquarius Cytocell (Cambridge, UK) (Figure 6B), the results confirmed the CGH Microarray and karyotype analysis.