Possible isochromosome 22 leading to trisomy 22

B F Manasse; W M Pfaffenzeller; N Gurtunca; T J de Ravel

doi:10.1002/1096-8628(20001218)95:5<411::aid-ajmg1>3.0.co;2-q

Possible isochromosome 22 leading to trisomy 22

Am J Med Genet. 2000 Dec 18;95(5):411-4. doi: 10.1002/1096-8628(20001218)95:5<411::aid-ajmg1>3.0.co;2-q.

Authors

B F Manasse¹, W M Pfaffenzeller, N Gurtunca, T J de Ravel

Affiliation

¹ Department of Human Genetics, The South African Institute for Medical Research and The University of the Witwatersrand, Johannesburg, South Africa.

PMID: 11146458
DOI: 10.1002/1096-8628(20001218)95:5<411::aid-ajmg1>3.0.co;2-q

Abstract

We describe the first case of trisomy 22 resulting from a monocentric, possible isochromosome 22. The female infant had multiple anomalies including an abnormal face, ambiguous genitalia, and both ventricular and atrial septal defects. Survival was short.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Adult
Chromosomes, Human, Pair 22 / genetics*
Face / abnormalities*
Face / diagnostic imaging
Female
Genitalia, Female / abnormalities*
Genitalia, Female / diagnostic imaging
Growth Disorders / genetics
Heart Septal Defects, Atrial / genetics*
Heart Septal Defects, Ventricular / genetics*
Humans
Infant, Newborn
Isochromosomes / genetics*
Karyotyping
Male
Monosomy
Phenotype
Pregnancy
Pregnancy Complications
Trisomy / genetics*
Ultrasonography