INTERCHROMOSOMAL DUPLICATION FOR THE SHORT ARM OF CHROMOSOME No. 9: REPORT OF THREE CASES DUE TO A FAMILIAL TRANSLOCATION t(9; 11) AND ONE CASE WITH A DE NOVO 47, XX, + 9p KARYOTYPE
- 1 December 1977
- journal article
- research article
- Published by Wiley in Journal of Intellectual Disability Research
- Vol. 21 (4) , 309-320
- https://doi.org/10.1111/j.1365-2788.1977.tb01595.x
Abstract
Four cases of the 9p duplication syndrome are described. Three affected sibs resulted from a maternal t(9;11) translocation and have a duplication of the segment 9pl3 .fwdarw. 9pter. They have the typical facies, hands and other features of the syndrome but are relatively mildly retarded. The 4th case has a de novo duplication of the short arm of chromosome 9. Her features are also typical although she is more retarded, particularly in expressive speech, than the other 3 individuals and has club feet. These observations further confirm the distinctive clinical features of this type of duplication, and support previous suggestions that the severity is roughly correlated with the length of the duplicated segment.This publication has 15 references indexed in Scilit:
- FOUR CASES OF 9p TRISOMY RESULTING FROM A BALANCED FAMILIAL TRANSLOCATION (9; 15) (q13;q11). CLINICAL PICTURE AND CYTOGENETIC FINDINGSJournal of Intellectual Disability Research, 2008
- Case report of an extra, small, acrocentric chromosome in a non-mongoloid girlClinical Genetics, 2008
- Familial 'partial 9p' trisomy: six cases and four carriers in three generations.Journal of Medical Genetics, 1976
- Partial and complete trisomy 9: Delineation of a trisomy 9 syndromeHuman Genetics, 1976
- Genetics of the +p9 syndromeHuman Genetics, 1976
- Trisomy 9p in a patient with a de novo 9/15 translocationClinical Genetics, 1975
- Trisomy 9q?. A variant of the 9p trisomy syndromeHuman Genetics, 1975
- Analyse de la trisomie 9p par dénaturation ménagéePublished by Springer Nature ,1973
- Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocationPublished by Springer Nature ,1971
- NUBBIN, A COMPOUND CHROMOSOMAL TYPE IN DATURAAnnals of the New York Academy of Sciences, 1927