A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short-lived infant

J Clin Lab Anal. 2020 Aug;34(8):e23355. doi: 10.1002/jcla.23355. Epub 2020 May 12.


Background: Non-acrocentric satellited chromosomes mostly result from familial balanced insertions or translocations with p12 or p13 of any acrocentric. Although all non-acrocentrics have been involved, only 12 instances of chromosome 6 involvement are known.

Case presentation: A female infant exhibited clinical features typical of 6qter deletions and also generalized hypertrichosis and synophrys, traits seldom reported in patients with similar imbalances or haploinsufficiency of ARID1B located in 6q25.3. She had a paternal derivative satellited 6q of a t(6;22)(q25.3;p12)pat entailing a 6q terminal deletion, karyotype 46,XX,der(6)t(6;22)(q25.3;p12)pat [16].ish del 6q subtel-.

Conclusion: Male and female carriers of reciprocal translocations or insertions between chromosome 6 and the short arm of any acrocentric have few unbalanced offspring mostly by adjacent-1 segregation. In addition, spontaneous abortions or male infertility was present in 7/13 instances of satellited chromosome 6.

Keywords: 6q deletion; chromosome 6; non-acrocentric satellited chromosomes; nucleolus organizer regions in 6q; satellited 6q.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, Pair 6 / genetics
  • DNA-Binding Proteins / genetics
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Transcription Factors / genetics
  • Translocation, Genetic
  • Young Adult


  • ARID1B protein, human
  • DNA-Binding Proteins
  • Transcription Factors

Supplementary concepts

  • Chromosome 6, monosomy 6q