An r(22)(p11→q13) in a moderately mentally retarded girl
- 1 October 1979
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 51 (2) , 157-162
- https://doi.org/10.1007/bf00287170
Abstract
An r(22) was detected in a 6-year-old female patient with growth retardation, IQ of 45, and a lower quotient for verbal performance. She presents some other minor anomalies. The break and fusion points probably were at p11 and q13.Keywords
This publication has 16 references indexed in Scilit:
- Phenotypic correlations in patients with ring chromosome 22Clinical Genetics, 1977
- Four new cases of ring 21 and 22 including familial transmission of ring 21.Journal of Medical Genetics, 1977
- Clinical and cytogenetic studies of two infants with partial monosomy GHuman Genetics, 1977
- A case of ring chromosome.Journal of Medical Genetics, 1976
- A NOTE ON A PATIENT WITH A RING-22 CHROMOSOME IDENTIFIED BY BANDINGJournal of Intellectual Disability Research, 1976
- A PROFOUNDLY MENTALLY HANDICAPPED WOMAN WITH A RING CHROMOSOME 22Journal of Intellectual Disability Research, 1975
- Frequency of deletion of short arm satellites in acrocentric chromosomesJournal of Medical Genetics, 1974
- Monozygotic Twins with Ring Chromosome 22Journal of Medical Genetics, 1973
- Identification of 21 r and 22r chromosomes by quinacrine fluorescenceClinical Genetics, 1972
- Ring-G Chromosome, a New G-Deletion Syndrome?Archives of Pediatrics & Adolescent Medicine, 1968