Literature DB >> 2984424

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

T Motegi, K Watanabe, N Nakamura, T Hasegawa, Y Yanagawa.   

Abstract

A 3 month old boy with a tandem duplication 9p (p12----p24) is reported. Both clinical and dermatoglyphic features were consistent with those of the trisomy 9p syndrome. However, the red cell galactose-1-P uridyl transferase (GALT) activity was normal despite the presence of the duplicated segment 9p13.

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Year:  1985        PMID： 2984424      PMCID： PMC1049380          DOI： 10.1136/jmg.22.1.64

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

Review 1.  Report of the Committee on the Genetic Constitution of Chromosomes 7, 8 and 9.

Authors:  P Meera Khan; M Smith
Journal:  Cytogenet Cell Genet       Date:  1984

2.  The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes.

Authors:  R S Young; T Reed; M E Hodes; C G Palmer
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

3.  Improved method for measuring galactose-I-phosphate uridyl transferase activity of erythrocytes.

Authors:  E Beutler; M C Baluda
Journal:  Clin Chim Acta       Date:  1966-03       Impact factor: 3.786

4.  Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding.

Authors:  T Ikeuchi
Journal:  Cytogenet Cell Genet       Date:  1984

5.  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
  5 in total
  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.  Duplication 9p due to unequal sister chromatid exchange.

Authors:  T Mattina; G Sorge; G Milone; R Garozzo; L Conti
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

3.  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

4.  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

5.  Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3).

Authors:  Babu Rao Vundinti; Lily Kerketta; Seema Korgaonkar; Kanjaksha Ghosh
Journal:  Indian J Hum Genet       Date:  2007-01

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.  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
  8 in total

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