Literature DB >> 422206

Partial duplication of the short arm of chromosome 9 (p13 leads to p22) in a child with typical 9p trisomy phenotype.

J P Fryns, P Casaer, H Van den Berghe.   

Abstract

A 3-year-old girl with duplication 9 (p22 leads to p13) is reported. The presence of a classical 9p trisomy phenotype in this patient suggests that this region (or part of it) is responsible for the major, typical clinical stigmata of this partial autosomal trisomy syndrome.

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Mesh：

Year:  1979        PMID： 422206     DOI： 10.1007/bf00291926

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  10 in total

1.  Possible intrachromosomal duplication in a case of trisomy 9p.

Authors:  H Chiyo; J Furuyama; N Suehara; Y Obashi; H Kikkawa
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

2.  The trisomy 9p syndrome.

Authors:  W R Centerwall; J W Beatty-DeSana
Journal:  Pediatrics       Date:  1975-11       Impact factor: 7.124

3.  Partial and complete trisomy 9: delineation of a trisomy 9 syndrome.

Authors:  G R Sutherland; R F Carter; L L Morris
Journal:  Hum Genet       Date:  1976-05-19       Impact factor: 4.132

4.  Trisomy for the distal half of the short arm of chromosome 9. A variant of the trisomy 9p syndrome.

Authors:  R C Lewandowski; J J Yunis; R Lehrke; J O'Leary; K F Swaiman; O Sanchez
Journal:  Am J Dis Child       Date:  1976-06

5.  [Giemsa-R-banding analysis of the trisomy 9p and report of a new case].

Authors:  M O Rethoré; H Hoehn; H D Rott; J Couturier; B Dutrillaux; J Lejeune
Journal:  Humangenetik       Date:  1973-04-16

6.  [4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].

Authors:  M O Rethoré; L Larget-Piet; D Abonyi; M Boeswillwald; R Berger; S Carpentier; J Cruveiller; B Dutrillau; J Lafourcade; M Penneau; J Lejeune
Journal:  Ann Genet       Date:  1970-12

7.  Translocation of 9q/13q resulting in duplication (trisomy 9pter leads to 9q22) and deficiency (monosomy 13pter leads to 13q12).

Authors:  P N Howard-Peebles; K M Yarbrough; G R Stoddard; J M Rary
Journal:  Clin Genet       Date:  1977-01       Impact factor: 4.438

8.  Serial duplication of 10 (q11 leads to q22) in a patient with minor congenital malformations.

Authors:  W Vogel; E Back; W Imm
Journal:  Clin Genet       Date:  1978-02       Impact factor: 4.438

9.  Familial 'partial 9p' trisomy: six cases and four carriers in three generations.

Authors:  W R Centerwall; K S Miller; L M Reeves
Journal:  J Med Genet       Date:  1976-02       Impact factor: 6.318

10.  Interchromosomal duplication for the short arm of chromosome no. 9: report of three cases due to a familial translocation t(9; 11) and one case with a de novo 47, XX, +9p karyotype.

Authors:  C C Lin; G Holman; L Sewell; P Bowen; B Biederman
Journal:  J Ment Defic Res       Date:  1977-12
  10 in total
  7 in total

1.  Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.

Authors:  Elyes Chabchoub; Laura Rodríguez; Enrique Galán; Elena Mansilla; Maria Luisa Martínez-Fernandez; Maria Luisa Martínez-Frías; Jean-Pierre Fryns; Joris Robert Vermeesch
Journal:  J Med Genet       Date:  2006-12-15       Impact factor: 6.318

2.  Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).

Authors:  B R Haddad; A E Lin; H Wyandt; A Milunsky
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

3.  Duplication of the short arm of chromosome 9. Analysis of five cases.

Authors:  C Cuoco; G Gimelli; F Pasquali; L Poloni; O Zuffardi; P Alicata; G Battaglino; F Bernardi; R Cerone; M Cotellessa; A Ghidoni; S Motta
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells.

Authors:  T Motegi; K Watanabe; N Nakamura; T Hasegawa; Y Yanagawa
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

5.  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

6.  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

7.  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
  7 in total

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