Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation

Journal Article · Mon Jul 17 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320570415· OSTI ID:102895

White, D M; Pillers, D A.M.; Magenis, R E ^[1]

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1. Oregon Health Sciences Univ., Portland, OR (United States); and others

Interstitial deletions of chromosome 4 have been described rarely and have had variable presentations. We describe the phenotypic characteristics associated with interstitial deletion of the p14-16 region of chromosome 4 in 7 patients with multiple minor anomalies in common, and with mental retardation. A review of published cases of interstitial deletions of the short arm of chromosome 4 is provided. These deletions present a distinct phenotype which is different from that of Wolf-Hirschhorn syndrome. 52 refs., 12 figs., 2 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 102895
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 57; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
GENES
GENETIC MAPPING
HUMAN CHROMOSOMES
MENTAL DISORDERS
PATIENTS
PHENOTYPE