Free proximal trisomy 21 without the Down syndrome
- 1 November 1987
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 32 (5) , 342-348
- https://doi.org/10.1111/j.1399-0004.1987.tb03299.x
Abstract
Analysis of partial duplication of chromosome 21 suggests that band 21q22 contains determinants for the Down syndrome. We report two cases of free proximal trisomy 21 without manifestations of the Down syndrome. Phenotypic anomalies included marked microcephaly, short stature, hypoplastic nails, and mental retardation/developmental delay. Our cases are consistent with the assignment of band 21q22 as the causal duplicated segment in the Down syndrome.Keywords
This publication has 17 references indexed in Scilit:
- Down syndrome due to partial trisomy 21qClinical Genetics, 2008
- Familial t (4;21)(q2.4;q2.2) leading to unbalanced offspring with partial duplication of 4q and of 21q without manifestations of the down syndromeAmerican Journal of Medical Genetics, 1984
- Partial trisomy 21Clinical Genetics, 1980
- Normal phenotype and partial trisomy for the G positive region of chromosome 21.Journal of Medical Genetics, 1979
- Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3).Journal of Medical Genetics, 1977
- Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21Clinical Genetics, 1977
- Partial trisomy 21Human Genetics, 1977
- Partial trisomy 21Clinical Genetics, 1973
- A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMESThe Lancet, 1971