Monosomy 13q32.3----qter: report of two cases.
- 1 April 1985
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 22 (2) , 142-145
- https://doi.org/10.1136/jmg.22.2.142
Abstract
Two unrelated patients with monosomy 13q32.3----qter are reported. Comparison with six similar cases previously published indicates that the craniofacial dysmorphism of the 13qter monosomy syndrome is related to band 13q34, the thumb hypoplasia to band 13q32, and an apparently different phenotype to band 13q33. Coagulation deficiency appears to be non-specific in monosomy 13qter.Keywords
This publication has 11 references indexed in Scilit:
- The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocationHuman Genetics, 1984
- Regional mapping of clotting factors VII and X to 13q34. Expression of factor VII through chromosome 8Human Genetics, 1984
- Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34)Human Genetics, 1982
- Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32→13qterClinical Genetics, 1980
- Interstitial deletion 13q33 resulting from maternal insertional translocationClinical Genetics, 1979
- DEL (13) (Q33) - EXCLUSION OF ESTERASE-D (ESD) LOCUS FROM 13Q33 AND Q341978
- High Resolution of Human ChromosomesScience, 1976
- Identification of chromosomal abnormalities by quinacrine-staining technique in patients with normal karyotypes by conventional analysisThe Journal of Pediatrics, 1974
- [13q+ chromosome due to a probable translocation of a supernumerary Y].1973
- The 13q-deletion syndrome.1969