Literature DB >> 7129421

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

C Cuoco, G Gimelli, F Pasquali, L Poloni, O Zuffardi, P Alicata, G Battaglino, F Bernardi, R Cerone, M Cotellessa, A Ghidoni, S Motta.   

Abstract

Five females with duplication of the short arm of one chromosome 9 are reported, one tetrasomic and four trisomic for 9p. The tetrasomy is due to an isochromosome 9p while the trisomies are due in one case to an intrachromosomal duplication present in lymphocytes but not in fibroblasts, two are secondary to translocations with chromosomes 22 and 13 respectively, and one is a mosaic with a cell line with an additional deleted chromosome 9 present in lymphocytes and fibroblasts. This analysis indicates that duplications 9p may result in impairment of ovarian function. The phenotypic differences between trisomy and tetrasomy 9p are discussed.

Entities:  

Mesh：

Year:  1982        PMID： 7129421     DOI： 10.1007/bf00291321

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


  18 in total

1.  A new case of the trisomy 9P syndrome. Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p) and a peculiar congenital heart defect.

Authors:  E Orye; H Verhaaren; H Van Egmond; A Devloo-Blancquaert
Journal:  Clin Genet       Date:  1975-02       Impact factor: 4.438

2.  Free trisomy 9P in elderly woman.

Authors:  U Gripenberg; K Hongell; M Iivanainen; T Kivimäki
Journal:  Ann Genet       Date:  1977-03

Review 3.  [Autosomal chromosome aberrations].

Authors:  A Schinzel
Journal:  Arch Genet (Zur)       Date:  1979

4.  The dermatoglyphic pattern of the trisomy 9p syndrome.

Authors:  A Rodewald; S Stengel-Rutkowski; M Zankl
Journal:  Clin Genet       Date:  1979-12       Impact factor: 4.438

5.  Partial tetrasomy 9(9pter to 9q2101) due to an extra iso-dicentric chromosome.

Authors:  T Abe; M Morita; K Kawai; S Misawa; T Takino; H Hashimoto; Y Nakagome
Journal:  Ann Genet       Date:  1977-06

6.  Trisomy 9p with an isochromosome of 9p.

Authors:  G Smith; A McCaa; T E Kelly
Journal:  Hum Genet       Date:  1978-05-16       Impact factor: 4.132

7.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

8.  9p duplication confirmed by gene dosage effect: report of two patients.

Authors:  T M Zadeh; S J Funderburk; R Carrel; K W Dumars
Journal:  Ann Genet       Date:  1981

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

Authors:  J P Fryns; P Casaer; H Van den Berghe
Journal:  Hum Genet       Date:  1979-01-25       Impact factor: 4.132

10.  Trisomy 9p resulting from de novo 9/15 translocation and a 9p isochromosome.

Authors:  K R Sandig; J Mücke; H Veit
Journal:  Hum Genet       Date:  1979-11       Impact factor: 4.132
View more
  8 in total

1.  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

2.  Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations.

Authors:  F Calvieri; C Tozzi; C Benincori; M V De Merulis; A Bellussi; M Genuardi; G Neri
Journal:  Eur J Pediatr       Date:  1988-08       Impact factor: 3.183

3.  A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report.

Authors:  Hela Bellil; Bérenice Herve; Elodie Herzog; Jean-Marc Ayoubi; François Vialard; Marine Poulain
Journal:  J Assist Reprod Genet       Date:  2020-01-24       Impact factor: 3.412

4.  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

5.  Tetrasomy 9p confirmed by GALT.

Authors:  P Balestrazzi; G Croci; C Frassi; F Franchi; G Giovannelli
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

6.  Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report.

Authors:  Saadia Amasdl; Abdelhafid Natiq; Siham Chafai Elalaoui; Aziza Sbiti; Thomas Liehr; Abdelaziz Sefiani
Journal:  J Med Case Rep       Date:  2016-05-13

7.  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

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
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.