Phenotypic features of a boy with trisomy of 16q22→qter due to paternal Y; 16 translocation

Fern Tsien, Eva Morava, Aimee Talarski, Michael Marble

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

We report on the phenotypic features of a patient with partial trisomy of the long arm of chromosome 16 due to an unbalanced Y;16 translocation (46,X,der[Y]t[Y;16] [q12;q22]pat). The patient was noted to have craniofacial anomalies and developmental delay, but no other major malformations. The father, a balanced Y;16 translocation carrier, has apparently normal fertility.

Original languageEnglish (US)
Pages (from-to)177-181
Number of pages5
JournalClinical Dysmorphology
Volume14
Issue number4
DOIs
StatePublished - Oct 1 2005

Keywords

  • Familial
  • Trisomy 16q
  • Y-autosome translocation

ASJC Scopus subject areas

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

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