Literature DB >> 1002145

Possible intrachromosomal duplication in a case of trisomy 9p.

H Chiyo, J Furuyama, N Suehara, Y Obashi, H Kikkawa.   

Abstract

A 5-year-old boy with multiple minor anomalies and mental retardation was found to have chromosomal condition of 46,XY,inv dup(9p) (pter leads to p13::p21 leads to p24::p13 leads to qter). The clinical features of the propositus fit well with those of trisomy 9p which have been established to be a clinical entity.

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Year:  1976        PMID： 1002145     DOI： 10.1007/bf00278892

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


  14 in total

1.  Trisomy 9p in a girl whose mother has a translocation t(9;20)(q12;p13).

Authors:  C Stoll; J M Levy; A Gardea
Journal:  Humangenetik       Date:  1975

2.  A case of trisomy 9p in a family with translocation 9/15.

Authors:  P Balícek; J Zizka; J Lichý
Journal:  Humangenetik       Date:  1975

3.  Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9.

Authors:  C E Blank; D C Colver; A M Potter; J McHugh; J Lorber
Journal:  Clin Genet       Date:  1975-04       Impact factor: 4.438

4.  [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

5.  Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15pplus;9qminus) in three generations.

Authors:  P E Podruch; B Weisskopf
Journal:  J Pediatr       Date:  1974-07       Impact factor: 4.406

6.  A new case of trisomy for the short arm of No. 9 chromosome.

Authors:  C Baccichetti; R Tenconi
Journal:  J Med Genet       Date:  1973-09       Impact factor: 6.318

7.  [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

8.  [Partial trisonomy C9 in a case of balanced maternal B4-C9 translocation].

Authors:  H D Rott; G Schwanitz; K P Grosse
Journal:  Z Kinderheilkd       Date:  1971

9.  Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocation.

Authors:  H Hoehn; W Engel; H Reinwein
Journal:  Humangenetik       Date:  1971

10.  Possible complex translocation t(9;14;13) (q12;pl?;Q31) in mother of a child with 9-p trisomy syndrome.

Authors:  H Fujita; T Abe; K Yamamoto; J Furuyama
Journal:  Humangenetik       Date:  1974
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  9 in total

1.  Familial trisomy 9p and spinal muscular atrophy: clinical, cytogenetic and embryological findings.

Authors:  M Tolksdorf; J Kunze; G Gross-Selbeck; K Sperling; R D Wegner; V Wieczorek; M Vogel
Journal:  Eur J Pediatr       Date:  1977-08-23       Impact factor: 3.183

2.  Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error.

Authors:  S Schwartz; M F Schwartz; S R Panny; C J Peterson; E Waters; M M Cohen
Journal:  Am J Hum Genet       Date:  1986-05       Impact factor: 11.025

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.  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.  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

6.  Confirmation of a de novo duplication, dup(10)(q24 leads to q26), by GOT1 gene dosage studies.

Authors:  D J Tomkins; B J Gitelman; M H Roberts
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  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

Review 8.  Distribution of break points in human structural rearrangements.

Authors:  Y Nakagome; T Matsubara; H Fujita
Journal:  Am J Hum Genet       Date:  1983-03       Impact factor: 11.025

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

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