Monosomy 16q: a distinct syndrome Apropos of a de novo del(16) (q2100q2300)
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 28 (1) , 84-86
- https://doi.org/10.1111/j.1399-0004.1985.tb01223.x
Abstract
A 2-mo.-old boy with delayed growth and development, brachycephaly, large anterior fontanelle, low-set folded ears, micrognathia, aortic coarctation, floppy abdominal muscles and pes varus, was found to have a 46,XY,del(16)(q2100q2300) de novo karyotype. This observation corroborates both the distinctness of the 16q monosomy syndrome and the pathogenetic role of the band 16q21.Keywords
This publication has 4 references indexed in Scilit:
- Identical twins with deletion 16q syndrome: Evidence that 16q12.2-q13 is the critical band regionHuman Genetics, 1984
- Interstitial deletion for a region in the long arm of chromosome 16Human Genetics, 1983
- Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16)(q21)Human Genetics, 1977
- A simple technique for demonstrating centromeric heterochromatinExperimental Cell Research, 1972