Inv dup (15) with mental retardation but few dysmorphic features.
Open Access
- 1 June 1984
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 21 (3) , 221-223
- https://doi.org/10.1136/jmg.21.3.221
Abstract
We report a Scottish child with inv dup (15) and compare the clinical features with those of previously reported cases. Since the first report by Parker and Alfi in 1972, there have been 44 reports of patients with confirmed or suspected inv dup (15). The extra chromosomal material has been variously described, but in all cases there appears to be an additional G group sized chromosome in which both ends are derived from the short arm, centromere, and proximal long arm of chromosome 15. In most cases there are satellites at both ends of this extra chromosome. We report the first patient from Scotland with similar cytogenetic findings.Keywords
This publication has 9 references indexed in Scilit:
- EXTRA DICENTRIC 15pter→q21/22 CHROMOSOMES IN FIVE UNRELATED PATIENTS WITH A DISTINCT SYNDROME OF PROGRESSIVE PSYCHOMOTOR RETARDATION, SEIZURES, HYPER-REACTIVITY AND DERMATOGLYPHIC ABNORMALITIESJournal of Intellectual Disability Research, 2008
- An extra idic(15p)(q11) chromosome in Prader-Willi syndromeHuman Genetics, 1980
- PARTIAL TRISOMY 15 AND INTRACTABLE SEIZURESActa Paediatrica, 1979
- Cytogenetic and clinical studies in five cases of inv dup(15)Human Genetics, 1979
- Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15Human Genetics, 1977
- Partial trisomy 15 in a young girlClinical Genetics, 1976
- A G-like trisomy with a major 15 proximal supernumerary component derived from a D/E balanced maternal interchangeThe Journal of Pediatrics, 1975
- A case of extra small acrocentric bisatellited chromosome in a non mongoloid childPublished by Springer Nature ,1975
- PARTIAL TRISOMY OF CHROMOSOME 15The Lancet, 1972