Duplication 3p21→3pter and cyclopia
- 1 May 1987
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 27 (1) , 33-37
- https://doi.org/10.1002/ajmg.1320270105
Abstract
We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cydopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Genetic Mutant Cell Repository (GM 7216).Keywords
This publication has 14 references indexed in Scilit:
- Cyclopia as a result of an unbalanced familial translocation, rcp(7;18)(q34;q21)American Journal of Medical Genetics, 1986
- Dup(3)(p2→pter) in two families, including one infant with cyclopiaAmerican Journal of Medical Genetics, 1985
- Cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)]American Journal of Medical Genetics, 1983
- The dup(3)(p25 → pter) syndrome: A case with holoprosencephalyAmerican Journal of Medical Genetics, 1983
- A fetus with partial trisomy 3 (p21-pter) detected by prenatal diagnosisJournal of Human Genetics, 1983
- Down syndrome—a disruption of homeostasisAmerican Journal of Medical Genetics, 1983
- Duplication of a segment of chromosome 3 in a subject with multiple congenital anomalies and a 47,XYY father, inversion of chromosomes 3 and 9 in the mother, and inversion of chromosome 9 in a brotherCytogenetic and Genome Research, 1979
- Analysis of the gross anatomical variations found in four cases of trisomy 13American Journal of Medical Genetics, 1978
- Familial CebocephalyClinical Pediatrics, 1970
- Chromosomal mosaicism associated with a case of cyclopiaThe Journal of Pediatrics, 1966