Abstract
A severely mentally retarded man displayed the following main symptoms: short stature, microcephaly, antimongoloid slant of palpebral fissures, big ears with hyperplastic helices, imperfect dental enamel, short and webbed neck, short arms, short hands, brachymetaphalangy, short second fingers, broad thumbs, short metatarsal bones, and unusually big first toes. It seems almost certain that the syndrome was caused by a chromosome deletion involving about half of 12p which was present in all of the lymphocytes examined.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Cooke P., Gordon R. R. Cytological studies on a human ring chromosome. Ann Hum Genet. 1965 Nov;29(2):147–150. doi: 10.1111/j.1469-1809.1965.tb00510.x. [DOI] [PubMed] [Google Scholar]
- HSU T. C. LONGITUDINAL DIFFERENTIATION OF CHROMOSOMES AND THE POSSIBILITY OF INTERSTITIAL TELOMERES. Exp Cell Res. 1963;24:SUPPL9–SUPPL9:85. doi: 10.1016/0014-4827(63)90246-5. [DOI] [PubMed] [Google Scholar]
- Laurent C., Nivelon A., Hartman E., Guerrier G. Monosomie partielle d'un chromosome du groupe C: (Cp-) Ann Genet. 1968 Dec;11(4):231–235. [PubMed] [Google Scholar]
- Summitt R. L. Cytogenetics in mentally defective children with anomalies: a controlled study. J Pediatr. 1969 Jan;74(1):58–66. doi: 10.1016/s0022-3476(69)80008-9. [DOI] [PubMed] [Google Scholar]
- UCHIDA I. A., MCRAE K. N., RAY M. FAMILIAL SHORT ARM DEFICIENCY OF CHROMOSOME 18 CONCOMITANT WITH ARHINENCEPHALY AND ALOPECIA CONGENITA. Am J Hum Genet. 1965 Sep;17:410–419. [PMC free article] [PubMed] [Google Scholar]