A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique
- 1 January 1981
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 59 (2) , 178-181
- https://doi.org/10.1007/bf00293073
Abstract
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.Keywords
This publication has 15 references indexed in Scilit:
- Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).Journal of Medical Genetics, 1981
- INTERSTITIAL 3P DELETION IN A CHILD DUE TO PATERNAL PARACENTRIC INSERTED INVERSION1980
- Interstitial deletion 3p associated with t(3p−;18q+) translocationJournal of Human Genetics, 1979
- A case of chromosome 3 duplication q deletion p syndrome born to the mother with a pericentric inversion, inv(3)(p25q21)Journal of Human Genetics, 1979
- Abnormal children of a 47,XYY father.Journal of Medical Genetics, 1979
- Partial trisomy 6Clinical Genetics, 1978
- Chromosome 3 Duplication q/Deletion p SyndromePediatrics, 1978
- A Patient With a Partial Deletion of the Short Arm of Chromosome 3American Journal of Diseases of Children, 1978
- The characterization of high-resolution G-banded chromosomes of manChromosoma, 1978
- TRANSMISSION OF 47,XYY KARYOTYPE?The Lancet, 1969