Syndrome of proximal interstitial deletion 4p15

Journal Article · Mon Sep 11 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320580321· OSTI ID:450746

Fryns, J P ^[1]

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1. Univ. of Leuven (Belgium)

In this journal, Chitayat et al. reported on 2 boys and a girl with interstitial deletion in the short arm of chromosome 4, including p15.2p15.33. All 3 patients had a characteristic face distinct from that of Wolf-Hirschhorn syndrome and multiple minor congenital anomalies. One patient had a congenitally enlarged penis. The authors noted that all had normal growth, and all had moderate psychomotor retardation (patient 1, developmental age of 4-6 years at age 9 years; patient 2, mental age 6 years at age 25 years; and patient 3, global delay with hypotonia, difficulties in both gross and fine motor development, and persistent delay in language skills). 5 refs., 1 fig.

• Sponsoring Organization: USDOE
• OSTI ID: 450746
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 58; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ANEUPLOIDY
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
DETECTION
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOMES
MENTAL DISORDERS
PATIENTS