Trisomy 9 Mosaicism with Multiple Congenital Anomalies
Open Access
- 1 June 1973
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 10 (2) , 180-184
- https://doi.org/10.1136/jmg.10.2.180
Abstract
A nine-year-old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY/47,XY,+9). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arteriosus, as well as significant abnormalities of the brain.Keywords
This publication has 17 references indexed in Scilit:
- Developmental Abnormalities Associated with a Ring Chromosome 6Journal of Medical Genetics, 1973
- Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques.Journal of Medical Genetics, 1972
- Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicismThe Journal of Pediatrics, 1970
- Apparent C Trisomy in Bone Marrow CellsScandinavian Journal of Haematology, 1970
- Trisomy C in an infant with polycystic kidneys and other malformationsThe Journal of Pediatrics, 1970
- Two cases of trisomy C6-12 mosaicism with multiple congenital malformations.Journal of Medical Genetics, 1969
- Mosaic Trisomy of an Autosome in the 6–12 Group in a Patient With Multiple Congenital AnomaliesActa Paediatrica, 1967
- POSSIBLE TRISOMY IN CHROMOSOME GROUP 6-12 IN A NORMAL WOMANThe Lancet, 1964
- POSSIBLE TRISOMY IN CHROMOSOME GROUP 6-12The Lancet, 1963
- CYTOGENETIC STUDIES IN PRIMARY AMENORRH$OElig;AThe Lancet, 1961