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

Abstract

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.

• Authors: F A Beemer, H F de France, I J Rosina-Angelista, L J Gerards, B P Cats, R Guyt
• Journal: Clinical genetics (Clin Genet) Vol. 26 Issue 3 Pg. 209-15 (Sep 1984) ISSN: 0009-9163 [Print] Denmark
• PMID: 6478641 (Publication Type: Case Reports, Journal Article)

Topics

• 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