Table 1 Clinical features of previously published cases involving pure 19q13.42q13.43 duplication
References | Tadaki et al. [18] | Abu-Amero et al. [19] | Pinto et al. [20] | Petre et al. [14] | Our case 1 | Our case 2 | Our case 3 |
|---|---|---|---|---|---|---|---|
Age/sex | N.A | 8y/F | N.A./F | 26w/N.A | 7 m/M | 5 m/M | 1 m/F |
Duplicated region | 19q13.42 | 19q13.42 | 19q13.42 | 19q13.42 | 19q13.42 | 19q13.42 | 19q13.42q13.43 |
Duplicated size | 77 kb 622 kb | 95 Kb | 25 kb | 1.06 Mb | 147 kb | 157 kb | 1.445 Mb |
Inheritance | De novo | De novo | Maternal | Paternal | Maternal | N.A | N.A |
Gestational age | N.A | N.A | N.A | N.A | 38w + 3d | 38w + 6d | 39w + 2d |
Weight at birth | N.A | N.A | N.A | N.A | 3.3 kg | 3.8 kg | 3.3 kg |
Length at birth | N.A | N.A | N.A | N.A | 50 cm | 50 cm | 50 cm |
Karyotype | N.A | N.A | N.A | N.A | 46,XY | 46,XY | 46,XX |
Postnatal/prenatal | Postnatal | Postnatal | Postnatal | Prenatal | Prenatal | Prenatal | Prenatal |
Chromosomal microarray results (hg19) | 19q13.42(55498558–55575815) × 3 19q13.42(55685280–56299373) × 3 | 19q13.42(66234676–6329930) × 3 | 19q13.42(55153092–55178778) × 3 | 19q13.42(53759522–54821015) × 3 | 19q13.42(54175437–54321990) × 3 | 19q13.42(54165218–54321990) × 3 | 19q13.42q13.43(56124077–57568700) × 3 |
Referred critical gene | NLRP2, NLRP9, NLRP11, IL11, HSPBP1 | KIR2DL4, KIR3DP1, KIR2DL1, KIR3DL3 | LILRB4, LIR5 | ZNF331 | NLRP12 | NLRP12 | NLRP4 NLRP5 NLRP8, -9, -11, -13 ZNF580, -444, -582, -667, -71 |
Parental phenotype | N.A | N.A | Healthy mother | Healthy father | Healthy parents | Healthy mother | Healthy parents |
Clinical manifestation | Systemic-onset juvenile idiopathic arthritis | Prominent forehead, low-set ears, clinodactyly, Duane retraction syndrome type III, history of infections | Language disorders, ASD, no epilepsy, no dysmorphic features | G1P0, Intrauterine growth restriction, intrauterine fetal death | G4P1A2, DS:1/205, ultrasound findings at 18 weeks of gestation showed no anomalies. No evident abnormalities after birth | G1P0, ultrasound findings: increased nuchal translucency at 12 weeks of gestation, fetal pyelic separation at 26 weeks of gestation. No evident abnormalities after birth | G1P0, DS:1/43, ultrasound findings at 21 weeks of gestation detected no anomalies. No evident abnormalities after birth |