De novo trisomy 9pter leads to q13. uri icon

Overview

abstract

  • A case of de novo trisomy 9p was observed. Cytogenetic analysis of G-, R-, Q-, and C-banded preparations revealed a karyotypic description of 47,XY,+del(9)(pter leads to q13). In addition to the principal characteristics of the 9p trisomy syndrome, the child presented with skeletal and urogenital abnormalities. It appears that certain clinical abnormalities are due to trisomy of 9q1.

publication date

  • June 30, 1977

Research

keywords

  • Chromosomes, Human, 13-15
  • Chromosomes, Human, 6-12 and X
  • Trisomy

Identity

Scopus Document Identifier

  • 0017380591

Digital Object Identifier (DOI)

  • 10.1007/BF00393577

PubMed ID

  • 885535

Additional Document Info

volume

  • 37

issue

  • 2