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Literature DB >> 8444466

Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17).

E Steichen-Gersdorf¹, R Trawöger, H C Duba, U Mayr, S Felber, G Utermann.

Abstract

We describe a de novo constitutional (X;17) (q13;p13 translocation in a girl with the clinical features of hypomelanosis of to and plexus papilloma.

Entities: Disease Gene Species

Mesh：

Year: 1993 PMID： 8444466 DOI： 10.1007/bf00202477

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

20 in total

1. Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.

Authors: V P Sybert; R A Pagon; M Donlan; C M Bradley
Journal: J Pediatr Date: 1990-04 Impact factor: 4.406

2. Hypomelanosis of Ito ("incontinentia pigmenti achromians"). Report of three cases and review of the literature.

Authors: J E Jelinek; R S Bart; S M Schiff
Journal: Arch Dermatol Date: 1973-04

3. Incontinentia pigmenti achromians. Multiple cases within a family.

Authors: M B Rubin
Journal: Arch Dermatol Date: 1972-03

4. Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?

Authors: S Gilgenkrantz; P Tridon; N Pinel-Briquel; J Beurey; M Weber
Journal: Ann Genet Date: 1985

5. Two cases of X/autosome translocation in females with incontinentia pigmenti.

Authors: S V Hodgson; B Neville; R W Jones; C Fear; M Bobrow
Journal: Hum Genet Date: 1985 Impact factor: 4.132

6. Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.

Authors: L A Cannizzaro; F Hecht
Journal: Clin Genet Date: 1987-07 Impact factor: 4.438

7. Hamartomatous dental cusps in hypomelanosis of Ito.

Authors: R Happle; F Vakilzadeh
Journal: Clin Genet Date: 1982-01 Impact factor: 4.438

8. Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes.

Authors: H Telenius; A H Pelmear; A Tunnacliffe; N P Carter; A Behmel; M A Ferguson-Smith; M Nordenskjöld; R Pfragner; B A Ponder
Journal: Genes Chromosomes Cancer Date: 1992-04 Impact factor: 5.006

Review 9. p53 mutations in human cancers.

Authors: M Hollstein; D Sidransky; B Vogelstein; C C Harris
Journal: Science Date: 1991-07-05 Impact factor: 47.728

10. The Bloch-Sulzberger syndrome (incontinentia pigmenti).

Authors: H HABER
Journal: Br J Dermatol Date: 1952-04 Impact factor: 9.302

8 in total

1. Brachmann-Cornelia de Lange syndrome with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study.

Authors: Fernando Chico-Ponce de León; Luis F Gordillo-Domínguez; Vicente González-Carranza; Samuel Torres-García; Constanza García-Delgado; Adriana Sánchez-Boiso; Francisco Arenas-Huertero; Mario Perezpeña-Diazconti; Pilar Eguía-Aguilar; César Baqueiro-Hernández; Guillermo Buenrostro-Márquez; Sonia Martínez-Rodríguez; Patrick Dhellemmes; Eduardo Castro-Sierra
Journal: Childs Nerv Syst Date: 2014-07-27 Impact factor: 1.475

Review 2. Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.

Authors: E Hatchwell
Journal: J Med Genet Date: 1996-03 Impact factor: 6.318

3. Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.

Authors: L S Correa-Cerro; H Rivera; A I Vasquez
Journal: J Med Genet Date: 1997-02 Impact factor: 6.318

4. X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.

Authors: E Hatchwell; D Robinson; J A Crolla; A E Cockwell
Journal: J Med Genet Date: 1996-03 Impact factor: 6.318