Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformations

Craig R. Warden, De Ann M Pillers, Mary Jo Rice, Julia Wildes, Joseph S Livingston, Brian A. Clark, Joseph T. Gilhooly, R. Ellen Magenis

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Interstitial duplications of chromosomes 1p are rare, with only 14 cases previously reported in the literature, and those have not revealed a unique syndrome. The phenotypes include multiple congenital abnormalities and both intra- and extra-uterine growth retardation. In general, the patients do poorly and do not survive beyond the age of several months. We report a newborn male with karyotype 46, XY, inv dup(1)(qter→p34.3::p34.3→p32.3::34.3→pter) with multiple congenital abnormalities including congenital heart disease and co-existing portal and pulmonary hypertension. The chromosome 1 origin of the extra material was confirmed with fluorescent in situ hybridization (FISH). Review of the GDB [Human Genome Database, 1990] reveals that the duplicated region includes the locus EDN2 that encodes endothelin-1, a potent vaso-constrictor, making genetic overdosage of this protein a likely etiology of the pulmonary hypertension. The diffuse abnormalities show effects in multiple cell lines and suggest that this region of chromosome 1p could be involved in determining cell migration and/or differentiation during organo-genesis.

Original languageEnglish (US)
Pages (from-to)100-105
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume101
Issue number2
DOIs
StatePublished - Jun 15 2001
Externally publishedYes

Fingerprint

Multiple Abnormalities
Chromosomes, Human, Pair 1
Pulmonary Hypertension
Heart Diseases
Chromosome Duplication
Newborn Infant
Portal Hypertension
Endothelin-1
Human Genome
Fluorescence In Situ Hybridization
Karyotype
Cell Movement
Cell Differentiation
Chromosomes
Databases
Phenotype
Cell Line
Growth
Proteins

Keywords

  • Cell migration abnormalities
  • Chromosome 1
  • Congenital heart disease
  • Duplication 1p
  • Endothelin-2
  • FISH
  • Fluorescent in situ hybridization
  • Growth retardation
  • Multiple congenital abnormalities
  • Portal hypertension
  • Pulmonary hypertension

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformations. / Warden, Craig R.; Pillers, De Ann M; Rice, Mary Jo; Wildes, Julia; Livingston, Joseph S; Clark, Brian A.; Gilhooly, Joseph T.; Ellen Magenis, R.

In: American Journal of Medical Genetics, Vol. 101, No. 2, 15.06.2001, p. 100-105.

Research output: Contribution to journalArticle

Warden, Craig R. ; Pillers, De Ann M ; Rice, Mary Jo ; Wildes, Julia ; Livingston, Joseph S ; Clark, Brian A. ; Gilhooly, Joseph T. ; Ellen Magenis, R. / Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformations. In: American Journal of Medical Genetics. 2001 ; Vol. 101, No. 2. pp. 100-105.
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