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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Caspersson T, Zech L, Johansson C, Modest EJ (1970) Identifying of human chromosomes by DNA-binding fluorescent agents. Chromosoma 30:215–227
Cossu P, Diana G, Mameli M, Cardia S, Milia A, Floris G, Cao A (1979) A case of D13 ring chromosome. Hum Genet 46:11–114
Fried K, Rosenblatt M, Mundel G, Krikler R (1975) Ring chromosome 13 syndrome. Clin Genet 7:203–208
Fryns JP, Deroover J, Van den Berghe H, (1974) Malformative syndrome with ring chromosome 13. Humangenetik 24:235–240
Giraud F, Emberger JM, Pinsard N, Mattei JF, Mattei MG (1975) Le syndrome du chromosome 13 en anneau. Pediatrie 4: 339–349
Hoo JJ, Obermann U, Cramer H (1974) The behavior of a ring chromosome 13. Humangenetik 24:161–171
Lejeune J, Lafourcade J, Berger R, Cruveiller J, Rethoré MO, Dutrillaux B, Abonyi D, Jérome H (1968) Le phénotype (Dr). Étude de trois cas de chromosomes D en anneau. Ann Genet (Paris) 11:79–87
Magenis RE, Wyandt HE, Overton KM, Macfarlane J (1976) Parental origin of a ring 13 chromosome in a female with multiple anomalies. Hum Genet 33:181–186
Martin NJ, Harvey PJ, Pearn JH (1982) The ring chromosome 13 syndrome. Hum Genet 61:18–23
Niebuhr E, Ottosen J (1973) Ring chromosome D(13) associated with multiple congenital malformations. Ann Génét 16:157–166
Schmid W, Mühlenthaler JP, Briner J, Knechtli H (1975) Ring chromosome 13 in a polymalformed anencephalic. Humangenetik 27:63–66
Schopfner CE (1978) In: Caffey J (ed) J Pediatric X-ray diagnosis, Section 7. The genital tract. Year Book Med Publ, Chicago London 1978
Seabright M (1972) The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosome in man. Chromosoma 36:204–210
Sumner AT (1972) A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 75:304–306
Verma RS, Dosik H, Chowdhry JH, Jhaver RC (1978) Ring chromosome 13 in a child with minor dysmorphic features. Am J Dis Child 132:1018–1021
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Parcheta, B., Wisniewski, L., Piontek, E. et al. Clinical features in a case with ring chromosome 13. Eur J Pediatr 144, 409–412 (1985). https://doi.org/10.1007/BF00441791
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00441791