Trisomy 7p resulting from isochromosome formation and whole-arm translocation

Journal Article · Mon Jan 02 04:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320550117· OSTI ID:91101

Lurie, I W; Cohen, M M.C. ^[1]; Schwartz, M F ^[2]

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1. Univ. of Maryland, Baltimore, MD (United States)
2. Columbia Medical Plan, MD (United States); and others

A newborn boy with a large anterior fontanel, minor facial anomalies, postaxial polydactyly, patent ductus arteriosus, and developmental delay had trisomy of 7p due to an i(7p) and a concomitant t(2;7) (q37.3; q11.1). Significant enlargement of the fontanel is the most characteristic finding in most patients with duplications involving 7p15-pter. Asynchrony in fore- and hind-brain and hemisphere formation leading to brain asymmetry and various defects in the posterior fossa are typical of infants with duplications of 7p11-p12. A variety of heart defects has also been found in more than 50% of patients with duplication of 7p segments. Isochromosome formation accompanied by whole-arm translocation, resulting in uniparental isodisomy for the involved segment, is an extremely rare cause leading to partial trisomies. Although it is not clear whether isochromosome formation precedes the whole-arm translocation or follows it, the secondary rearrangement may have adaptive significance. 46 refs., 2 figs., 3 tabs.

• OSTI ID: 91101
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 1 Vol. 55; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BANDING TECHNIQUES
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
GENETIC MAPPING
GENETICS
HUMAN CHROMOSOME 7
KARYOTYPE
NEONATES
NERVOUS SYSTEM DISEASES