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Table 1 Detailed clinical information of our twelve cases with 5p- syndrome

From: Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

IndexMaternal age (years)Gestation (w + d)G-bandSnp array resultsUltrasound findingInheritance
12623 + 146,XX,del(5)(p13)arr [hg19] 5p15.33p13.3 (38,139-30,536,972)× 1(NIPT at 13 weeks: high risk for 5p-), Cerebellar hypoplasia 
22724 + 246,XY,del(5)(p14)arr [hg19] 5p15.33p14.3 (464,153-23,132,422)×1Dysgenesis of the cerebellar vermis 
34316 + 646,XY,del(5)(p15)arr [hg19] 5p15.33p15.1 (38,139-17,981,307)× 1Choroid plexus cyst 
4262246,XX,del(5)(p15)arr [hg19] 5p15.33p15.31 (38,139-9,782,775)×1Abnormal maternal serum screening (increased β-HCG) 
53022 + 646,XX,del(5)(p14)arr [hg19] 5p15.33p14.3 (38,139-19,508,190)× 1Cystic adenomatoid malformation of the lungde novo
63121 + 146,XX,del(5)(p14)arr [hg19] 5p14.3p15.33 (1,151,161-20,687,905)× 1NF:6.8 mmDe novo
73513 + 2NAarr [hg19] 5p15.33p14.3 (38,139-22,612,407)×1,13q31.2q34 (89,736,965-115,106,996)×3Hydrops fetalis, NT:8.7 mm 
82729 + 0NAarr [hg19] 5p15.33p15.1 (354,051-17,484,038)×1,5q34q35.3 (165,731,079-180,705,539)×3VSD, NF:9 mm, abnormality of lateral ventricle 
93723 + 5NAarr [hg19] 5p15.33p15.1 (560,476-17,910,453)×1, 8q24.12q24.3(119,864,143-146,293,086)× 3Cerebellar hypoplasia 
102114 + 546,XX, der(5)t(5;18)(p15.2;q11.2)arr [hg19] 5p15.33p15.2 (38,139-10,702,034)× 1,18q11.2q23(19,178,726-78,014,582)× 3NT:5.5 mm, abnormal heart valve morphology, absent of the nasal bonepaternal 46,XY, t(5,18)(p15.1,q11.2)
11271846,XY,der(5)t(5;7)(p15;q21)arr [hg19] 5p15.33p15.2 (38,139-12,392,815)× 1, 7q21.11q36.3 (83,599,335-159,119,486)× 3.SUA, DLV, talipes equinovarus, abnormality of the cerebral ventricles 
122621 + 246,XX,der(5)t(5,18)(p15.2,q12.3)arr [hg19] 5p15.33p15.2 (560,476-14,855,659)×1, 18q12.3q23(43,354,452-78,014,582)×3.CLP, VSD, NF:6.5 mm, (NIPT: high risk for T18) 
  1. w Weeks, d Days, NA Not analysis, NT/NF Nuchal translucency/nuchal fold thickness, VSD Ventricular septal defect, SUA Single umbilical artery, DLV Dilation of lateral ventricles, CLP Cleft lip and palate, β-HCG Beta-human chorionic gonadotropin.