How to cite this article: Puvabanditsin S, Garrow E, Brandsma E, Savla J, Kunjumon B, Gadi I. 2009. Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review. Am J Med Genet Part A 149A:1782–1785.
Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review†
Article first published online: 16 JUL 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 8, pages 1782–1785, August 2009
How to Cite
Puvabanditsin, S., Garrow, E., Brandsma, E., Savla, J., Kunjumon, B. and Gadi, I. (2009), Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review. Am. J. Med. Genet., 149A: 1782–1785. doi: 10.1002/ajmg.a.32972
- Issue published online: 23 JUL 2009
- Article first published online: 16 JUL 2009
- Manuscript Accepted: 9 MAY 2009
- Manuscript Received: 19 MAY 2008
- partial trisomy 19p;
- partial monosomy 1p36;
- short arm;
- deletion of chromosome;
We report on a 15-month-old girl with a deletion of the distal short arm of chromosome 1p36.3, partial trisomy of the short arm of chromosome 19p13.3, growth and developmental delay, and multiple anomalies including microcephaly, bifrontal prominence, obtuse frontonasal angle, short columella, hypertelorism, sacral dimples, and a bicuspid pulmonary valve. Based on our FISH mapping studies, we estimate the size of the trisomic region of 19p.13.3 to be ∼3.17 Mb, and the region of monosomy for 1p36.3 as 1.3 Mb. This is the first report of a patient with partial trisomy 19p13.3 and partial monosomy p36.3. © 2009 Wiley-Liss, Inc.