Clinical characteristics associated with dup17(q24q25.1) in a mosaic mother and two non-mosaic daughters

Research output: Contribution to journalArticle

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Abstract

We present cytogenetic and clinical findings in a familial case of dup(17)(q24q25.1). The duplication was transmitted from the mosaic mother to two non-mosaic daughters. This is the first report involving duplication of 17q24q25.1. Manifestations in our three patients were similar to those in previously reported cases with 17q partial duplications, but also included brachydactyly and craniosynostosis. These findings represent additional clinical characteristics of distal 17q duplication and may indicate the presence of gene(s) involved in skeletal development in this region, duplication of which may result in a phenotype resembling Ullrich-Turner syndrome.

Original languageEnglish (US)
Pages (from-to)171-176
Number of pages6
JournalClinical Dysmorphology
Volume7
Issue number3
DOIs
StatePublished - 1998

Fingerprint

Nuclear Family
Brachydactyly
Mothers
Craniosynostoses
Turner Syndrome
Cytogenetics
Phenotype
Genes
Trisomy 17q22 Chromosome 17

Keywords

  • Brachydactyly
  • Craniosynostosis
  • Dup(17)(q21q25.1)

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy

Cite this

Clinical characteristics associated with dup17(q24q25.1) in a mosaic mother and two non-mosaic daughters. / Babovic-Vuksanovic, Dusica; Westman, J. A.; Jalal, S. M.; Lindor, Noralane Morey.

In: Clinical Dysmorphology, Vol. 7, No. 3, 1998, p. 171-176.

Research output: Contribution to journalArticle

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