Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5 (p151q333)

Clin Genet. 1984 Sep;26(3):209-15. doi: 10.1111/j.1399-0004.1984.tb04369.x.


A family is described in which the mother's 9 pregnancies ended in the birth of 2 healthy girls, 4 spontaneous abortions and 3 infants with multiple congenital malformations as bird-headed appearance, pre- and postnatal growth deficiency, microcephaly, micrognathia with small mouth and cat-like cry. Two of the three affected sibs had complex cardiac malformations incompatible with life; the third had a bicuspid aortic valve. Chromosomal investigation revealed an abnormal karyotype: 46,XX,rec(5),dupq,inv(5)(p151q333)pat, leading to a partial monosomy 5p and partial trisomy 5q. A large pericentric inversion of chromosome 5 was found in the father: 46,XY,inv(5)(p151q333) as well as in the firstborn healthy female sib. The clinical features partly fit the partial monosomy 5p as well as the partial trisomy 5q syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Chromosome Deletion*
  • Chromosome Inversion*
  • Chromosomes, Human, 4-5*
  • Cri-du-Chat Syndrome / genetics*
  • Dermatoglyphics
  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Lymphocytes / ultrastructure
  • Male
  • Pedigree
  • Trisomy*