Literature DB >> 25652353

Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31.

Simona Sosoi1, Ioana Streata1, Stefania Tudorache2, Florin Burada1, Mirela Siminel3, Nicolae Cernea2, Mihai Ioana1, Dominic Gabriel Iliescu2, Francisc Mixich1.   

Abstract

Interstitial deletion of the proximal short arm of chromosome 10 represents a rare genetic alteration. Literature review revealed that only 10 postnatal diagnosed clinical cases with deletions overlapping 10p12p11 were published until present. We report the first prenatal diagnosis and postnatal findings in a male fetus with a 10.6 Mb interstitial deletion of the short arm of chromosome 10 (10p11.22-p12.31).

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Year:  2015        PMID： 25652353     DOI： 10.1038/jhg.2015.4

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  5 in total

1.  Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.

Authors:  Nana Okamoto; Shin Hayashi; Ayako Masui; Rika Kosaki; Izumi Oguri; Tomoko Hasegawa; Issei Imoto; Yoshio Makita; Akira Hata; Keiji Moriyama; Johji Inazawa
Journal:  J Hum Genet       Date:  2012-01-19       Impact factor: 3.172

2.  Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Authors:  Christian Wentzel; Evica Rajcan-Separovic; Claudia A L Ruivenkamp; Sandra Chantot-Bastaraud; Corinne Metay; Joris Andrieux; Göran Annerén; Antoinet C J Gijsbers; Luc Druart; Capucine Hyon; Marie-France Portnoi; Eva-Lena Stattin; Catherine Vincent-Delorme; Sarina G Kant; Michelle Steinraths; Sandrine Marlin; Irina Giurgea; Ann-Charlotte Thuresson
Journal:  Eur J Hum Genet       Date:  2011-04-27       Impact factor: 4.246

3.  Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype.

Authors:  Linda Kleeman; Diana W Bianchi; Lisa G Shaffer; Emily Rorem; Janet Cowan; Sabrina D Craigo; Hocine Tighiouart; Louise E Wilkins-Haug
Journal:  Prenat Diagn       Date:  2009-12       Impact factor: 3.050

4.  Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.

Authors:  Henry J Mroczkowski; Georgianne Arnold; Francis X Schneck; Aleksandar Rajkovic; Svetlana A Yatsenko
Journal:  Am J Med Genet A       Date:  2014-07-29       Impact factor: 2.802

5.  Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.

Authors:  Raveen Shahdadpuri; Bert de Vries; Rolph Pfundt; Nicole de Leeuw; William Reardon
Journal:  Am J Med Genet A       Date:  2008-01-15       Impact factor: 2.802
  5 in total
  1 in total

1.  Prenatal diagnosis of a pure 15q distal trisomy derived from a maternal pericentric inversion: A case report.

Authors:  Florin Burada; Ioana Streata; Anda Ungureanu; Dan Ruican; Rodica Nagy; Simona Serban-Sosoi; Danai Stambouli; Luiza Dimos; Gabriela Popescu-Hobeanu; Ioana Mihai; Dominic Iliescu
Journal:  Exp Ther Med       Date:  2021-01-29       Impact factor: 2.447
  1 in total

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