Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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 - 1 Nov 2017

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 20

Share to Diagnosis, Differential

Share to Heart Defects, Congenital

Share to Heart Septal Defects, Atrial

Share to Ultrasonography, Prenatal

Share to Upper Extremity Deformities, Congenital

Source

Identifiers

PMID: 28807863
DOI: 10.1016/j.ejmg.2017.08.010

Genes

SALL4
ADNP
KCNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray.PMID 28807863Read ↗

Prenatal genetic diagnosis of Williams-Beuren syndrome with atypical and complex phenotypes using SNP array and whole exome sequencingSemantic proximity Read ↗

Case report of a novel phenotype in 18q deletion syndrome.Semantic proximity Read ↗

Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.Semantic proximity Read ↗

Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding—A Comprehensive ReviewSemantic proximity Read ↗

Prenatal ultrasonic presentation in fetuses with monogenic neurologic and neuromuscular diseases: a retrospective studySemantic proximity Read ↗

A prenatal case of split-hand malformation associated with 17p13.3 triplication - a dilemma in genetic counseling.Semantic proximity Read ↗

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal CasesSemantic proximity Read ↗

Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature reviewSemantic proximity Read ↗

Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review.Semantic proximity Read ↗

Chromosomal Abnormality in Fetuses with Isolated Antenatal Hydronephrosis: Update for Prenatal Diagnosis and Genetic CounselingSemantic proximity Read ↗

Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.Semantic proximity Read ↗

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.