Abstract
A newborn male with cri-du-chat syndrome, congenital nuclear cataracts, microspherophakia, and probably ectopic lenses is reported. Microspherophakia in cri-du-chat syndrome has not been previously described. The congenital cataracts were inherited from his mother who had a balanced 5;13 translocation; the two events are considered to be coincidental and a possible 'position effect' was excluded, since the other members of her family with congenital cataracts, were chromosomally normal. This is the fourth case reported where familial cri-du-chat syndrome involves chromosomes 5p and 13q.
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- GERMAN J., LEJEUNE J., MACINTYRE M. N., DE GROUCHY J. CHROMOSOMAL AUTORADIOGRAPHY IN THE CRI DU CHAT SYNDROME. Cytogenetics. 1964;3:347–352. [PubMed] [Google Scholar]
- Howard R. O. Ocular abnormalities in the cri du chat syndrome. Am J Ophthalmol. 1972 Jun;73(6):949–954. doi: 10.1016/0002-9394(72)90465-5. [DOI] [PubMed] [Google Scholar]
- LEJEUNE J., LAFOURCADE J., BERGER R., VIALATTE J., BOESWILLWALD M., SERINGE P., TURPIN R. TROIS CAS DE D'EL'ETION PARTIELLE DU BRAS COURT D'UN CHROMOSOME 5. C R Hebd Seances Acad Sci. 1963 Nov 18;257:3098–3102. [PubMed] [Google Scholar]
- Niebuhr E. Cytologic observations in 35 individuals with a 5p- karyotype. Hum Genet. 1978 Jun 9;42(2):143–156. doi: 10.1007/BF00283634. [DOI] [PubMed] [Google Scholar]
- Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 1978 Nov 16;44(3):227–275. doi: 10.1007/BF00394291. [DOI] [PubMed] [Google Scholar]