Ring chromosome 18q and jumping translocation 18p in an adult male with hypergonadotrophic hypogonadism

Constitutional jumping translocations (JT) are rare, especially in phenotypically normal individuals. We report on an adult male with partial hypogonadism as the sole phenotypic abnormality with an unusual chromosome abnormality. In this patient, centric fission of chromosome 18 lead to formation of...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2004-08, Vol.129A (1), p.25-28
Main Authors: Zahed, L., Oreibi, G., Azar, C., Salti, I.
Format: Article
Language:English
Subjects:
Adult
centric fission
Chromosomes, Human, Pair 18 - genetics
Follicle Stimulating Hormone - blood
Humans
hypogonadism
Hypogonadism - blood
Hypogonadism - genetics
In Situ Hybridization, Fluorescence
jumping translocation 18p
Karyotyping
Male
Oligospermia - blood
Oligospermia - genetics
ring 18q
Ring Chromosomes
Testosterone - blood
Translocation, Genetic
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Description
Summary:Constitutional jumping translocations (JT) are rare, especially in phenotypically normal individuals. We report on an adult male with partial hypogonadism as the sole phenotypic abnormality with an unusual chromosome abnormality. In this patient, centric fission of chromosome 18 lead to formation of a ring 18q chromosome, while 18p formed a JT through centromere–telomere fusion with chromosome 8q (66%) or 20q (13%). In 21% of cells, the 18p fragment was missing. Fluorescent in situ hybridization revealed the presence of interstitial telomeres at the junction site of the fusion and unequal distribution of the alphoid sequences through the centric fission, leaving a small, yet functional centromere within the ring. We discuss the phenotype of the patient in light of this unusual karyotype. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30099