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Table 1 Comparison of the newly identified patients with reported patients with deletions in 1q21.1q21.2 and 8q12.1 of similar sizes. In fact, in several public databases (DECIPHER, ClinVar), further cases with deletions affecting these regions are documented, but none of them exhibited alterations of similar size. Nearly all patients have been referred for molecular karyotyping due to clinical features of SRS, but only the NHS criteria are shown here

From: Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes

  Symptoms Our case [9] [8] SR9116 [8] SR5695 [10] patient 1a [10] patient 1b [10] patient 2 Frequency
a Information on 1q21.1q21.2 cases
Variant Affected 1q21.1q21.2 region (GRCh37) 145,895,747–147,897,962 145,261,451–148,343,412 145,770,626–147,831,171 145,932,455–147,831,171 146,564,742–147,735,011 146,641,600–147,735,011 145,987,155–147,735,011  
Size of the deletion 2 Mb 3 Mb 2 Mb 1.9 Mb 1.17 Mb 1.09 Mb 1.74 Mb  
Parental origin de novo de novo maternal not maternal maternal maternal de novo  
NH-CSS criteria SGA/IUGR 0 0 1 1 NA NA NA 50.0% (2/4)
Height at 2 years (< -2 SD) 0 1 1 1 1 NA 1 83.3% (5/6)
Relative macrocephaly 0 0 NA 0 NA NA 1 25.0% (1/4)
Feeding difficulties 1 1 NA 1 1 1 1 100.0% (6/6)
body asymmetry 0 1 0 0 NA NA NA 25.0% (1/4)
Protruding forehead 0 1 0 1 NA NA NA 50.0% (2/4)
NH-CSS 1/6 4/6 2/4 4/6 2/2 1/1 3/3  
  Symptoms Our case [13] Patient 1 [13] Patient 2 [12] [14] SNV cases, reviewed by [13] Frequency
b Molecular and clinical information on 8q12.1 patients
Variant Affected 8p21.1 region (GRCh37) 57,079,399–57,155,945 56,609,388–59,488,289   56,834,331–58,921,491 46,XX,del[8](q11q12) n = 8 (cases for which information was available)  
Size of the deletion 77 kb 2.9 Mb 2.1 Mb NA    
Origin de novo Maternal de novo de novo    
NH-CSS criteria SGA/IUGR 0 0 1 1 1 6 (6) 81.8% (9/11)
Height at 2 years (< -2 SD) 0 NA 0 1 1 5 (5) 88.9% (8/9)
Relative macrocephaly 0 0 1 1 0 2 (5) 44.4% (4/9)
Feeding difficulties 1 1 1 1 NA 6 (6) 100.0% (10/10)
Body asymmetry 0 0 0 0 0 0 (7) 0.0% (0/12)
Protruding forehead 1 1 1 0 NA 5 (6) 80.0% (8/10)
NH-CSS 2/6 2/5 4/6 4/6 2/4 Score ≥ 4/6: 4 (5) 60.0% (6/10)
  1. IUGR = intrauterine growth retardation; SD = standard deviation; SGA = small for gestational age; NA = not assessed, NH-CSS = Netchine-Harbison clinical scoring system
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Molecular Cytogenetics

ISSN: 1755-8166