Literature DB >> 9600733

Direct duplication of 9p22-->p24 in a child with duplication 9p syndrome.

A Fujimoto1, M S Lin, S Schwartz.   

Abstract

A de novo direct duplication of 9p22-->p24 was shown in a child with a duplication 9p phenotype by GTG banding and fluorescence in situ hybridization (FISH) using a chromosome-9 specific painting probe as well as 6 YAC DNA probes localized to the 9p13-9p23 region. The breakpoints in this patient and previously reported patients suggest that 9p22 may be the critical region for duplication 9p syndrome.

Entities:  

Mesh：

Year:  1998        PMID： 9600733

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

1.  A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.

Authors:  Khaled K Abu-Amero; Ali M Hellani; Mustafa A Salih; Mohammad Z Seidahmed; Tageldin S Elmalik; Ghassan Zidan; Thomas M Bosley
Journal:  BMC Med Genet       Date:  2010-09-21       Impact factor: 2.103

2.  Basonuclin 2 has a function in the multiplication of embryonic craniofacial mesenchymal cells and is orthologous to disco proteins.

Authors:  Amandine Vanhoutteghem; Anna Maciejewski-Duval; Cyril Bouche; Brigitte Delhomme; Françoise Hervé; Fabrice Daubigney; Guillaume Soubigou; Masatake Araki; Kimi Araki; Ken-ichi Yamamura; Philippe Djian
Journal:  Proc Natl Acad Sci U S A       Date:  2009-08-12       Impact factor: 11.205

3.  De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation.

Authors:  Paola E Leone; Andy Pérez-Villa; Verónica Yumiceba; María Ángeles Hernández; Jennyfer M García-Cárdenas; Isaac Armendáriz-Castillo; Santiago Guerrero; Patricia Guevara-Ramírez; Andrés López-Cortés; Ana Karina Zambrano; Juan Luis García; Jesús María Hernández; César Paz-Y-Miño
Journal:  J Pediatr Genet       Date:  2019-09-16

4.  Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.

Authors:  Daniel L Di Bartolo; Mohamed El Naggar; Renius Owen; Trilochan Sahoo; Fred Gilbert; Venkat R Pulijaal; Susan Mathew
Journal:  Mol Cytogenet       Date:  2012-07-09       Impact factor: 2.009

5.  Duplication 9p and their implication to phenotype.

Authors:  Roberta Santos Guilherme; Vera Ayres Meloni; Ana Beatriz Alvarez Perez; Ana Luiza Pilla; Marco Antonio Paula de Ramos; Anelisa Gollo Dantas; Sylvia Satomi Takeno; Leslie Domenici Kulikowski; Maria Isabel Melaragno
Journal:  BMC Med Genet       Date:  2014-12-20       Impact factor: 2.103

6.  Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.

Authors:  J B Wu; J Sha; J F Zhai; Y Liu; B Zhang
Journal:  Mol Cytogenet       Date:  2020-02-06       Impact factor: 2.009

7.  CNVs and Chromosomal Aneuploidy in Patients With Early-Onset Schizophrenia and Bipolar Disorder: Genotype-Phenotype Associations.

Authors:  Hojka Gregoric Kumperscak; Danijela Krgovic; Maja Drobnic Radobuljac; Nina Senica; Andreja Zagorac; Nadja Kokalj Vokac
Journal:  Front Psychiatry       Date:  2021-01-12       Impact factor: 4.157

8.  De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH.

Authors:  Serdar Kasakyan; Laurence Lohmann; Azeddine Aboura; Mazin Quimsiyeh; Yves Menezo; Gerard Tachdjian; Moncef Benkhalifa
Journal:  Mol Cytogenet       Date:  2008-12-23       Impact factor: 2.009

9.  Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female.

Authors:  P J Hulick; K M Noonan; S Kulkarni; D J Donovan; M Listewnik; C Ihm; J M Stoler; S Weremowicz
Journal:  Cytogenet Genome Res       Date:  2010-01-06       Impact factor: 1.636
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.