Two patients with ring chromosome 15 syndrome
- 1 January 1988
- journal article
- review article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 29 (1) , 149-154
- https://doi.org/10.1002/ajmg.1320290119
Abstract
We report on 2 patients (3½ year‐old‐male and 6‐year‐old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café‐au‐lait spots (30%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. The average maternal and parental age at the time of birth was 28 and 31 years, respectively.Keywords
This publication has 23 references indexed in Scilit:
- A RING CHROMOSOME IN THE 13-15 GROUP ASSOCIATED WITH MICROCEPHALIC DWARFISM, MENTAL RETARDATION AND EMOTIONAL IMMATURITYHereditas, 2009
- Ring chromosome 15: Report of a case in an infertile manClinical Genetics, 2008
- Severe Growth Failure Associated with Atrophic Intestinal Mucosa and Ring Chromosome 15Acta Paediatrica, 1986
- Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.Journal of Medical Genetics, 1985
- Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15European Journal of Pediatrics, 1984
- A boy with ring chromosome 15 derived from a t(15q;15q) robertsonian translocation in the mother: Cytogenetic and biochemical findingsAmerican Journal of Medical Genetics, 1983
- Ring chromosome 15 in a male adult with radial defects. Evaluation of the phenotypeClinical Genetics, 1980
- Ring Chromosome 15 and Failure to ThriveArchives of Pediatrics & Adolescent Medicine, 1980
- Ring chromosome 15; 46,XX,r(15) (p11q26) in a girlJournal of Human Genetics, 1978
- 46,XX/46,XX,r(15) mosaiciam: report of a case.Journal of Medical Genetics, 1977