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Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray (CROSBI ID 292352)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Stipoljev Feodora ; Miric-Tesanic Danka ; Hafner Tomislav ; Barbalic Maja ; Logara Monika ; Lasan-Trcic Ruzica ; Vicic Ana ; Gjergja- Juraski Romana Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray // European journal of medical genetics, 60 (2017), 11; 589-594. doi: 10.1016/j.ejmg.2017.08.010

Podaci o odgovornosti

Stipoljev Feodora ; Miric-Tesanic Danka ; Hafner Tomislav ; Barbalic Maja ; Logara Monika ; Lasan-Trcic Ruzica ; Vicic Ana ; Gjergja- Juraski Romana

engleski

Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray

We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial- ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases. Central nervous system anomaly in the form of enlarged lateral brain ventricles with choroid plexus shifted backwards was not previously reported as a part of SALL4 related disorders. The pregnancy was terminated at 14 + 3 weeks of pregnancy and the autopsy confirmed ultrasonographic findings. Deleted region included 38 genes, where only SALL4, ADNP and KCNB1 heterozygote pathogenic variants were described to be cause of syndromic forms. Radial ray anomalies are common part of clinical picture of SALL4 related disorders. Despite the lack of prenatally described cases, we hypothesized that maldevelopment of lateral brain ventriculomegaly could be very early sonographic sign of disturbed ADNP expression causing Helsmoortel-Van der Aa syndrome, but in some extent also of KCNB1 related early-onset epileptic encephalopathy. Furthermore, the possible dosage-dependent influence of recessive genes located in this region cannot be also excluded. The use of genome-wide technologies enables the detection of subtle chromosomal imbalances and more precise familial genetic counseling regarding actual and future pregnancies.

Radial ray anomaly ; SALL4 ; Ventriculomegaly ; ADNP ; Chromosome 20 deletion ; Microarray

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Podaci o izdanju

60 (11)

2017.

589-594

objavljeno

1769-7212

1878-0849

10.1016/j.ejmg.2017.08.010

Povezanost rada

nije evidentirano

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