Analphoid 3qter markers

Ikuko Teshima, Erawati V. Bawle, Rosanna Weksberg, Cheryl Shuman, Daniel L. Van Dyke, Stuart Schwartz

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

Two cases of marker chromosomes derived from a non-centromeric location were studied to determine the characteristics of these markers with respect to the presence of functional centromeres and whether an associated phenotype could be described. The markers were characterized by fluorescence in situ hybridization and centromeric protein studies. Assessments were done to identify clinical features. Case 1 is a girl referred at age 1.5 years with swirly areas of hyperpigmentation, bilateral preauricular pits, hypotonia, developmental delay, and seizures. Case 2 is a male first evaluated as a newborn and then later during the first year of life. He had streaky hypopigmentation, right preauricular pit, accessory nipples, postaxial polydactyly, asymmetric cerebral ventricles, duplicated right kidney, a right pulmonary artery stenosis, and seizures. Mosaicism for an extra marker from the 3qter region was present in both cases. Both markers had a constriction near one end and were C-band negative. Centromeric protein studies indicated absence of CENP-B, presence of CENP-C (data for case 1 only), and presence of CENP-E. Marker chromosomes were thus identified with a chromosomal origin far from their usual centromeric region and yet appeared to have functional centromeres. These two cases did not permit a specific clinical phenotype to be ascribed to the presence of tetrasomy for 3q26.2 - 3q27.2→3qter. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)113-119
Number of pages7
JournalAmerican journal of medical genetics
Volume94
Issue number2
DOIs
StatePublished - 2000

Keywords

  • Analphoid marker chromosome
  • Pigmentary anomalies
  • Tetrasomy 3q

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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