Clinical features in a case with ring chromosome 13
- 1 November 1985
- journal article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 144 (4) , 409-412
- https://doi.org/10.1007/bf00441791
Abstract
A 30-month-old boy with severe psychomotor retardation and numerous developmental anomalies, such as small trigonocephalic head, craniofacial anomalies, malformations of fingers with hypoplastic thumbs, anomalies of urogenital organs and imperforate anus, is presented. Cytogenetic studies of peripheral blood lymphocytes with differential staining of chromosomes revealed 46,XY,r13 karyotype. The correlation between clinical features and the observed chromosome aberration is discussed. Hitherto unreported developmental brain anomalies with partial exhibited skeletal abnormalities, some not reported previously.Keywords
This publication has 10 references indexed in Scilit:
- The ring chromosome 13 syndromeHuman Genetics, 1982
- A case of D13 ring chromosomeHuman Genetics, 1979
- Ring Chromosome 13 in a Child With Minor Dysmorphic FeaturesAmerican Journal of Diseases of Children, 1978
- Parental origin of a ring 13 chromosome in a female with multiple anomaliesHuman Genetics, 1976
- Ring chromosome 13 in a polymalformed anencephalicHumangenetik, 1975
- Ring chromosome 13 syndromeClinical Genetics, 1975
- A simple technique for demonstrating centromeric heterochromatinExperimental Cell Research, 1972
- The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of manChromosoma, 1972
- Identification of human chromosomes by DNA-binding fluorescent agentsChromosoma, 1970