Pure partial trisomy of the short arm of chromosome 5
- 1 June 1989
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 82 (3) , 296-298
- https://doi.org/10.1007/bf00291177
Abstract
We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32→5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature.Keywords
This publication has 20 references indexed in Scilit:
- Dir ins(9)(q34.3q22.1q31.3) or inv ins(9)(q34.3q22.3q21.2)?Journal of Human Genetics, 1987
- Inverted insertion (9)(q34.3q22.3q21.2) and its recombination product: Duplication 9q21.2q22.3Journal of Human Genetics, 1987
- A case report of a de novo tandem duplication (5p) (p14 → pter)Clinical Genetics, 1987
- Duplication 5q(5q22→5q33): From an intrachromosomal insertionAmerican Journal of Medical Genetics, 1985
- Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their fatherAmerican Journal of Medical Genetics, 1983
- Duplication of 16p from insertion of 16p into 16q with subsequent duplication due to crossing over within the inserted segmentAmerican Journal of Medical Genetics, 1983
- A clinical syndrome associated with dup(5p)American Journal of Medical Genetics, 1982
- 'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations.Journal of Medical Genetics, 1977
- Presumptive direct insertion within chromosome 2 in manAnnals of Human Genetics, 1973
- A 4–5/21–22 Chromosomal Translocation Associated with Multiple Congenital Anomalies1Acta Paediatrica, 1964