1. Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism
- Author
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Shunji Yamamori, Makiko Osawa, Yasuhiro Mori, Reiko Shimizu, Shogen Cho, Norimasa Mitsui, and Hirofumi Ohashi
- Subjects
Male ,medicine.medical_specialty ,Adolescent ,Developmental Disabilities ,Hearing Loss, Conductive ,Chromosomal translocation ,Biology ,Hypothalamic disease ,Translocation, Genetic ,Craniofacial Abnormalities ,Hypogonadotropic hypogonadism ,Internal medicine ,Genetics ,medicine ,Humans ,Genetics (clinical) ,Chromosomes, Human, Pair 10 ,Hypogonadism ,Breakpoint ,Tall Stature ,Dysostosis ,Karyotype ,Bone age ,Syndrome ,medicine.disease ,Endocrinology ,Synostosis ,Karyotyping ,Chromosome Deletion ,Carrier Proteins ,Chromosomes, Human, Pair 17 - Abstract
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.
- Published
- 2008
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