Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion

Genet Test. 2006 Winter;10(4):272-6. doi: 10.1089/gte.2006.10.272.

Abstract

We present a case of a de novo Xq22.1 chromosomal terminal deletion discovered prenatally by conventional cytogenetics. The pregnancy resulted in the birth of a normal girl. Preferential inactivation of the abnormal X was demonstrated postnatally. Fluorescence in situ hybridization (FISH) demonstrated a terminal Xq deletion spanning Xq22.1 -->qter. An X painting probe ruled out a translocation. The deleted X chromosome was determined to be of paternal origin. The girl is now 4 years old with normal physical and psychomotor development. X chromosomal deletions are infrequent findings in prenatal diagnosis and present a difficult counseling challenge when they occur. Prenatal X-inactivation studies provide an opportunity for more informative genetic counseling when a de novo X chromosome deletion is detected.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, X*
  • Female
  • Humans
  • Infant, Newborn
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Sex Chromosome Aberrations*
  • X Chromosome Inactivation