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. 1983 Apr;20(2):107–111. doi: 10.1136/jmg.20.2.107

Partial monosomy of chromosome 10 short arms.

A Gencík, U Brönniman, R Tobler, P Auf der Maur
PMCID: PMC1049010  PMID: 6842544

Abstract

Two children with monosomy 10p13 are reported. In the first case the monosomy was the result of a maternal balanced translocation t(3;10) (p27;p13) while the second case was a de novo mutation. We reviewed clinical details of cases reported so far and found that certain symptoms are typical of the deletion of a comparatively large segment of chromosome 10 short arms. These symptoms include mental and growth retardation, skull abnormalities, antimongoloid slant of the eyes, ear abnormalities, anteverted nostrils, abnormalities of the hands and feet, cryptorchidism in boys, and, primarily, hypoplasia or aplasia of the olfactory bulbs and olfactory tracts as well as narrow palpebral fissures or eyelid ptosis.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Berger R., Larroche J. C., Toubas P. L. Deletion of the short arm of chromosome No. 10. Acta Paediatr Scand. 1977 Sep;66(5):659–662. doi: 10.1111/j.1651-2227.1977.tb07965.x. [DOI] [PubMed] [Google Scholar]
  2. Dallapiccola B., Chessa L., Vignetti P., Ferrante E., Gandini E. Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12). Hum Genet. 1979;50(1):45–49. doi: 10.1007/BF00295588. [DOI] [PubMed] [Google Scholar]
  3. Elliott D., Thomas G. H., Condron C. J., Khuri N., Richardson F. C-group chromosome abnormality (? 10p-). Occurrence in a child with multiple malformations. Am J Dis Child. 1970 Jan;119(1):72–73. doi: 10.1001/archpedi.1970.02100050074017. [DOI] [PubMed] [Google Scholar]
  4. Francke U., Kernahan C., Bradshaw C. Del (10)p autosomal deletion syndrome: clinical, cytogenetic and gene marker studies. Humangenetik. 1975;26(4):343–351. doi: 10.1007/BF00285386. [DOI] [PubMed] [Google Scholar]
  5. Fryns J. P., De Boeck K., Jaeken J., van den Berghe H. Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome. Hum Genet. 1978 Aug 31;43(2):239–244. doi: 10.1007/BF00293602. [DOI] [PubMed] [Google Scholar]
  6. Fryns J. P., De Muelenaere A., Van den Berghe H. Distal 10p deletion syndrome. Ann Genet. 1981;24(3):189–190. [PubMed] [Google Scholar]
  7. Klep-de Pater J. M., Bijlsma J. B., Alkema F. M. Partial monosomy 10p syndrome. Eur J Pediatr. 1981 Oct;137(2):243–246. doi: 10.1007/BF00441326. [DOI] [PubMed] [Google Scholar]
  8. Lansky S., Daniel W., Fleiszar K. Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus. J Med Genet. 1977 Feb;14(1):61–63. doi: 10.1136/jmg.14.1.61. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Lurie I. W., Lazjuk G. I., Gurevich D. B., Kravtzoa G. I., Nedzved M. K., Shved I. A. Partial trisomy 10p in two generations. Hum Genet. 1978 Mar 17;41(2):235–241. doi: 10.1007/BF00273107. [DOI] [PubMed] [Google Scholar]
  10. Prieto F., Badia L., Moreno J. A., Barbero P., Asensi F. 10p- syndrome associated with multiple chromosomal abnormalities. Hum Genet. 1978 Dec 18;45(2):229–235. doi: 10.1007/BF00286969. [DOI] [PubMed] [Google Scholar]
  11. Shokeir M. H., Ray M., Hamerton J. L., Bauder F., O'Brien H. Deletion of the short arm of chromosome No. 10. J Med Genet. 1975 Mar;12(1):99–103. doi: 10.1136/jmg.12.1.99. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Simoni G., Rossella F., Dalprà L., Visconti G., Piria-Schwarz C. Ring chromosome 10 associated with multiple congenital malformations. Hum Genet. 1979 Oct 1;51(2):117–121. doi: 10.1007/BF00287164. [DOI] [PubMed] [Google Scholar]
  13. Sparkes R. S., Ling S. M., Muller H. Ring 10 chromosome: 46,XX,r10(p15q26). Hum Genet. 1978 Sep 19;43(3):341–345. doi: 10.1007/BF00278844. [DOI] [PubMed] [Google Scholar]
  14. Stene J., Stengel-Rutkowski S. Risk for short arm 10 trisomy. A segregation analysis of eleven families with different translocations. Hum Genet. 1977 Nov 2;39(1):7–13. doi: 10.1007/BF00273148. [DOI] [PubMed] [Google Scholar]
  15. Tsukino R., Tsuda N., Dezawa T., Ishii T., Koike M. Ring chromosome 10:46,XX,r(10)(p15 leads to q26). J Med Genet. 1980 Apr;17(2):148–150. doi: 10.1136/jmg.17.2.148. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. de la Chapelle A., Miller O. J. Report of the committee on the genetic constitution of chromosomes 10, 11, 12, X, and Y. Cytogenet Cell Genet. 1979;25(1-4):47–58. doi: 10.1159/000131399. [DOI] [PubMed] [Google Scholar]

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