Summary
A girl with delayed growth in body height and weight, retarded psychomotor development, facial dysmorphism, high-arched palate, extension defects of elbows, and a probable hearing impairment is presented. A chromosome investigation by both conventional and high-resolution banding techniques revealed an apparently pure interstitial deletion of the proximal segment of the short arm of chromosome 3 (46, XX, del(3) (p11p14.2) de novo). The paternal karyotype is 47,XYY. The clinical features of the patient are compared with those of two previously reported cases in the literature with an interstitial 3p deletion.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Allerdice PW, Browne N, Murphy DP (1975) Chromosome 3 duplication q21→qter deletion p25→pter syndrome in children of carriers of a pericentric inversion inv(3)(p25q21). Am J Hum Genet 27: 699–718
Borgaonkar D, Shah SA (1974) The XYY chromosome male-or syndrome? In: Steinberg AG, Bearn AG (eds)Prog Med Genet, Vol X. Grune and Stratton, New York San Francisco London, pp 135–222
Boué J, Hirschhorn K, Lucas M, Gautier M, Moszer M, Bach C (1974) Aneusomies de recombinaison. Conséquences d'une inversion péricentrique d'un chromosome 3 paternal. Ann Pédiatr 21:567–573
Fineman RM, Hecht F, Howard RD, Breg WR (1978) Chromosome 3 duplication q/deletion p syndrome. Pediatrics 61:611–618
Fitch N (1978) Partial trisomy 6. Clin Genet 14:181–185
Francke U, Jones W, Moran MJ (1975) Sex chromosome abnormalities in husbands and wives. Lancet 1:333–334
Gonzales J, Lesourd S, Braconnier A (1980) Délétion partielle du bras court du chromosome 3. A propos d'un cas. Ann Genet (Paris) 23: 119–122
Hauschka TS, Hasson JE, Goldstein MN, Koepf GF, Sandberg AA (1962) An XYY man with progeny indicating familial tendency to non-disjunction. Am J Hum Genet 14:22–30
Kawashima H, Maruyama S (1979) A case of chromosome 3 duplication q deletion p syndrome born to the mother with a pericentric inversion, inv(3)(p25q21). Jpn J Human Genet 24:9–12
Kogame K, Kudo H (1979) Interstitial deletion 3p associated with t(3p-;18q+) translocation. Jpn Human Genet 24:245–252
Schinzel A (1981) Duplication-deletion with partial trisomy 1q and partial monosomy 3p resulting from a maternal reciprocal translocation rep (1;3)(q32;p25). J Med Genet 18:64–68
Stoll C, Flori E, Clavert A, Beshara D, Buck P (1979) Abnormal children of a 47, XYY father. J Med Genet 16:66–68
Sundqvist U, Hellström E (1969) Transmission of 47, XYY karyotype? Lancet 2:1367
Verjaal M, Nef JD(1978) A patient with a partial deletion of the short arm of chromosome 3. Am J Dis Child 132:43–45
Wyandt HE, Kasprzak R, Ennis J, Willson K, Koch V, Schnatterly P, Wilson W, Kelly TE (1980) Interstitial 3p deletion in a child due to paternal paracentric inserted inversion. Am J Hum Genet 32: 731–735
Yunis JJ, Chandler E(1977) High-resolution chromosome analysis in clinical medicine. In: Stefanini M, Hossaini A (eds) Prog Clin Pathol, Vol VII. Grune and Stratton, New York, pp 267–288
Yunis JJ, Sawyer JR, Ball DW (1978) The characterization of high-resolution G-banded chromosomes of man. Chromosoma (Berlin) 67:293–307
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Sichong, Z., Bui, TH., Castro, I. et al. A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique. Hum Genet 59, 178–181 (1981). https://doi.org/10.1007/BF00293073
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00293073