Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature-Reference-Cited by-同舟云学术

Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature

Published:2014-02-12 Issue:4 Volume:100 Page:284-293
ISSN:1542-0752
Container-title:Birth Defects Research Part A: Clinical and Molecular Teratology
language:en
Short-container-title:Birth Defects Research

Author:

Sifakis Stavros¹,Eleftheriades Makarios²,Kappou Dimitra¹,Murru Roberta³,Konstantinidou Anastasia⁴,Orru Sandro³,Ziegler Monika⁵,Liehr Thomas⁵,Manolakos Emmanouil⁶,Papoulidis Ioannis⁶

Affiliation:

1. Department of Obstetrics and GynecologyUniversity Hospital of HeraklionHeraklion Crete Greece

2. Embryo CareFetal Medicine CentreAthens Greece

3. Cattedra di Genetica MedicaUniversita di CagliariCagliari Italy

4. 1st Department of PathologyUniversity of Athens, Medical SchoolAthens Greece

5. Jena University Hospital, Institute of Human Genetics and AnthropologyJena Germany

6. Eurogenetica S.A., Laboratory of GeneticsAthens and Thessaloniki Greece

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/bdra.23213

Reference34 articles.

1. De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly

2. Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients

3. Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy

4. Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

5. Partial trisomy of the long arm of chromosome 1: Prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature

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