Literature DB >> 15326635

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises.

L Spruijt1, J J M Engelen, I P Bruinen-Smeijsters, J C M Albrechts, J Schrander, C T R M Schrander-Stumpel.   

Abstract

We report on a patient with a de novo 15q24q26.1 interstitial deletion. She presented with developmental delay, behavioral characteristics, and mild dysmorphism with very blue irises. We review the limited literature of interstitial 15q deletions. There was no distinct phenotypic overlap between these two cases in literature and the present patient. Additional reports are necessary in order to establish a possible recognizable deletion 15q24q26.1 phenotype.

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Year:  2004        PMID: 15326635     DOI: 10.1002/ajmg.a.30185

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  4 in total

1.  Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays.

Authors:  Marilyn M Li; Manjunath A Nimmakayalu; Danielle Mercer; Hans C Andersson; Beverly S Emanuel
Journal:  Am J Med Genet A       Date:  2008-02-01       Impact factor: 2.802

2.  Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

Authors:  Ayman W El-Hattab; Teresa A Smolarek; Martha E Walker; Elizabeth K Schorry; LaDonna L Immken; Gayle Patel; Mary-Alice Abbott; Brendan C Lanpher; Zhishuo Ou; Sung-Hae L Kang; Ankita Patel; Fernando Scaglia; James R Lupski; Sau Wai Cheung; Pawel Stankiewicz
Journal:  Hum Genet       Date:  2009-06-26       Impact factor: 4.132

3.  A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Authors:  Eva Klopocki; Luitgard M Graul-Neumann; Ulrike Grieben; Holger Tönnies; Hans-Hilger Ropers; Denise Horn; Stefan Mundlos; Reinhard Ullmann
Journal:  Eur J Pediatr       Date:  2007-10-12       Impact factor: 3.183

4.  De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case.

Authors:  Ha-Su Kim; Jin-Yeong Han; Myo-Jing Kim
Journal:  Korean J Pediatr       Date:  2015-08-21
  4 in total

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