Literature DB >> 28232782

An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.

Paolo Guanciali-Franchi1, Claudio Celentano2, Melissa Alfonsi1, Chiara Palka3, Giulietta Di Pasqua1, Barbara Matarrelli2, Giandomenico Palka1.   

Abstract

A prenatal case of a de novo interstitial deletion distal to 8q24 was reported. Ultrasound examination and postmortem evaluation demonstrated no apparent phenotypic alterations. Array CGH showed an 11.4-Mb loss in chromosome 8 ranging from 8q24.13 to 8q24.23. This case partially overlaps the 2 cases previously described in the literature.

Keywords:  Array CGH; Chromosome 8; Interstitial deletion

Year:  2016        PMID： 28232782      PMCID： PMC5260537          DOI： 10.1159/000452967

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  6 in total

1.  Long-range enhancers regulating Myc expression are required for normal facial morphogenesis.

Authors:  Veli Vural Uslu; Massimo Petretich; Sandra Ruf; Katja Langenfeld; Nuno A Fonseca; John C Marioni; François Spitz
Journal:  Nat Genet       Date:  2014-05-25       Impact factor: 38.330

2.  Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype.

Authors:  J R Batania; K Morris; E Ma; Y Huang; J McComb
Journal:  Clin Genet       Date:  2001-11       Impact factor: 4.438

3.  The introduction of the absolute risk for the detection of fetal aneuploidies in the first-trimester screening.

Authors:  Francesco Padula; Antonio Simone Laganà; Salvatore Giovanni Vitale; Laura D'Emidio; Claudio Coco; Diana Giannarelli; Maria Cariola; Alessandro Favilli; Claudio Giorlandino
Journal:  J Matern Fetal Neonatal Med       Date:  2016-07-21

4.  An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.

Authors:  J B G M Verheij; S A de Munnik; T Dijkhuizen; N de Leeuw; D Olde Weghuis; G J van den Hoek; R S Rijlaarsdam; Y E M Thomasse; F G Dikkers; C L M Marcelis; C M A van Ravenswaaij-Arts
Journal:  Eur J Med Genet       Date:  2009-05-21       Impact factor: 2.708

5.  Predictive value of pregnancy-associated plasma protein-A (PAPP-A) and free beta-hCG on fetal growth restriction: results of a prospective study.

Authors:  Pietro Cignini; Laura Maggio Savasta; Ferdinando Antonio Gulino; Salvatore Giovanni Vitale; Lucia Mangiafico; Alvaro Mesoraca; Claudio Giorlandino
Journal:  Arch Gynecol Obstet       Date:  2015-11-11       Impact factor: 2.344

Review 6.  Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.

Authors:  S J Fennell; J W Benson; A D Kindley; M J Schwarz; B Czepulkowski
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318
  6 in total

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