Syndrome of proximal interstitial deletion 4p15
Journal Article
·
· American Journal of Medical Genetics
- 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, Vol. 58, Issue 3; Other Information: PBD: 11 Sep 1995
- Country of Publication:
- United States
- Language:
- English
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