Deletion (9) (p13.1 p21.1)

Fernando Scaglia, Olaf A.F. Bodamer, Sue Ann Berend, Louise R. Adam, Lisa G. Shaffer

Research output: Contribution to journalArticle

Abstract

We report on a 22-month-old girl with minor facial anomalies, global developmental delay, growth retardation, seizures, and leukoencephalopathy. Initial clinical assessment suggested the diagnosis of Williams syndrome. Results of fluorescence in situ hybridization testing for elastin were normal. However, chromosome analysis showed a 46,XX, del(9)(p13.1p21.1) karyotype in peripheral lymphocytes. Parental chromosomes were normal, indicating a de novo deletion. This patient's manifestations are compared with those of two other cases with overlapping deletions of the proximal short arm of chromosome 9. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)113-115
Number of pages3
JournalAmerican journal of medical genetics
Volume91
Issue number2
DOIs
StatePublished - Mar 16 2000

Keywords

  • Developmental delay
  • Growth failure
  • Leukoencephalopathy
  • Monosomy 9p

ASJC Scopus subject areas

  • Genetics(clinical)

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    Scaglia, F., Bodamer, O. A. F., Berend, S. A., Adam, L. R., & Shaffer, L. G. (2000). Deletion (9) (p13.1 p21.1). American journal of medical genetics, 91(2), 113-115. https://doi.org/10.1002/(SICI)1096-8628(20000313)91:2<113::AID-AJMG6>3.0.CO;2-W