Literature DB >> 9219006

Partial trisomy 15q: report of a patient and literature review.

K Chandler1, C T Schrander-Stumpel, J Engelen, P Theunissen, J P Fryns.   

Abstract

We report a girl with severe developmental delay, scoliosis and mild dysmorphism. She was found to have a partial duplication of the long arm of chromosome 15. Precise cytogenetic diagnosis was possible after additional in situ hybridisation. A Karyotype of 46,XX,dup (15) (pter-->q26.3::q24-->qter) was concluded. We compare her data with the literature. No specific phenotype was found.

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Mesh:

Year:  1997        PMID: 9219006

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  3 in total

1.  A case of de novo duplication of 15q24-q26.3.

Authors:  Eun Young Kim; Yu Kyong Kim; Mi Kyoung Kim; Ji Mi Jung; Ga Won Jeon; Hye Ran Kim; Jong Beom Sin
Journal:  Korean J Pediatr       Date:  2011-06-30

2.  Prenatal diagnosis of a pure 15q distal trisomy derived from a maternal pericentric inversion: A case report.

Authors:  Florin Burada; Ioana Streata; Anda Ungureanu; Dan Ruican; Rodica Nagy; Simona Serban-Sosoi; Danai Stambouli; Luiza Dimos; Gabriela Popescu-Hobeanu; Ioana Mihai; Dominic Iliescu
Journal:  Exp Ther Med       Date:  2021-01-29       Impact factor: 2.447

3.  Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function.

Authors:  Rossella Cannarella; Teresa Mattina; Rosita A Condorelli; Laura M Mongioì; Giuseppe Pandini; Sandro La Vignera; Aldo E Calogero
Journal:  Endocr Connect       Date:  2017-10       Impact factor: 3.335

  3 in total

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