Monosomy 11q: Report of new phenotypic manifestations

S. Puvabanditsin, E. Garrow, Mo Zia-Ullah, S. Supavekin, P. Lianthanasarn, K. I. Denev

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

We present a case of new phenotypic findings not previously reported associated with a partial deletion of chromosome 11 with a break point at 23q - (46,XY,del(11)(q23). Partial deletion of chromosome 11q was first described by Jacobsen et al(4). Forty-eight patients have been reported during the last 30 years, with variable break points between 11q11 and 11 qter. New phenotypic findings in our patient with the associated 11q deletion are imperforate anus, bilateral cataracts, and hypoplastic, multilobed lungs.

Original languageEnglish (US)
Pages (from-to)283-286
Number of pages4
JournalGenetic Counseling
Volume12
Issue number3
StatePublished - 2001
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Keywords

  • Cataracts
  • Chromosome deletion
  • Imperforate anus
  • Monosomy 11q
  • Multilobed lungs

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