Monosomy 6q1: syndrome delineation

Am J Med Genet. 1996 Mar 15;62(2):105-8. doi: 10.1002/(SICI)1096-8628(19960315)62:2<105::AID-AJMG1>3.0.CO;2-V.

Abstract

We report on a girl with a de novo 6q1 interstitial deletion. To our knowledge, this is the second reported case with a deletion of 6q11-q15. We review the phenotype of monosomy 6q1. Our patient has manifestations similar to others with monosomy 6q1 including mental deficiency, growth retardation, short neck, and minor facial anomalies.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6*
  • Cytogenetics
  • Female
  • Humans
  • Male
  • Monosomy
  • Pregnancy
  • Syndrome