[Tetrasomy 9p].

Abstract

A newborn male with multiple malformations and an extrachromosome is presented. The cytogenetic study of peripheral blood lymphocytes revealed tetrasomy 9p: 47,XY, + t(9;9)(pter----q13::p11----pter). The C-banding pattern provided evidence for maternal origin of the extrachromosome. Tetrasomy for the short arm of chromosome 9 is a very rare condition; reports about only ten further patients have been found in the literature. The phenotypic expression resembles trisomy 9p, but tetrasomy 9p has more severe additional malformations.

• Authors: W Foerster, M Koch, S Hansen
• Journal: Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde (Monatsschr Kinderheilkd) Vol. 133 Issue 9 Pg. 694-7 (Sep 1985) ISSN: 0026-9298 [Print] Germany
• Vernacular Title: Tetrasomie 9p.
• PMID: 2865673 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Arm (abnormalities)
• Brain (abnormalities)
• Chromosome Aberrations (genetics)
• Chromosome Banding
• Chromosome Disorders
• Chromosomes, Human, 6-12 and X
• Cleft Lip (genetics)
• Cleft Palate (genetics)
• Cryptorchidism (genetics)
• Heart Defects, Congenital (genetics)
• Humans
• Infant, Newborn
• Leg (abnormalities)
• Male