How to cite this article: Shimizu R, Mitsui N, Mori Y, Cho S, Yamamori S, Osawa M, Ohashi H. 2008. Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism. Am J Med Genet Part A 146A:1458–1461.
Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism†
Article first published online: 30 APR 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 11, pages 1458–1461, 1 June 2008
How to Cite
Shimizu, R., Mitsui, N., Mori, Y., Cho, S., Yamamori, S., Osawa, M. and Ohashi, H. (2008), Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism. Am. J. Med. Genet., 146A: 1458–1461. doi: 10.1002/ajmg.a.32319
- Issue published online: 19 MAY 2008
- Article first published online: 30 APR 2008
- Manuscript Accepted: 20 FEB 2008
- Manuscript Received: 30 MAY 2007
- Ministry of Health, Labour and Welfare of Japan. Grant Number: H18-005
- Kawano Masanori Memorial Foundation for Promotion of Pediatrics, Japan
- reciprocal translocation;
- cryptic deletion;
- hypogonadotropic hypogonadism;
- multiple synostosis syndrome 1;
We report on a boy who had multiple synostosis syndrome 1, an autosomal dominant disorder characterized by progressive symphalangism, multiple joint fusions, conductive deafness, and mild facial dysmorphism. In addition the boy developed delay of puberty, bone age, and closure of the epiphyseal lines of long bones with tall stature. These findings and decreased plasma LH and FSH levels at age 19 years were compatible with hypogonadotropic hypogonadism. G-banded chromosomes showed a balanced translocation t(10;17)(p15.3;q22). Chromosomal FISH analysis, using a series of BAC clones surrounding the translocation breakpoints, detected a 2.2–3.9 Mb deletion at 17q22. The deletion encompassed NOG, a gene responsible for multiple synostosis syndrome 1. It was assumed that a gene for pituitary secretion of gonoadotropic hormones was deleted at the 17q22 segment. © 2008 Wiley-Liss, Inc.