Characterisation of a satellited non-fluorescent Y chromosome (Y[nfqs]) by FISH

• Published in: Journal of medical genetics Vol. 34; no. 10; pp. 817 - 818
• Main Authors: Verma, R S, Gogineni, S K, Kleyman, S M, Conte, R A
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-10-1997; BMJ; BMJ Publishing Group LTD
• Subjects: Adult; Biological and medical sciences; Chromosome aberrations; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 15; DNA, Satellite; Female; Fluorescence; Genetic Counseling; Humans; In Situ Hybridization, Fluorescence - methods; Male; Medical genetics; Medical sciences; Pregnancy; Prenatal Diagnosis; Y Chromosome; Chromosomal aberration; Human; Molecular hybridization; In situ; Fluorescence; Y-Chromosome; Case study; Prenatal; Fine needle; Abnormal chromosome D15; Abnormal chromosome; Genetics; Satellite chromosome; Diagnosis
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.34.10.817

A fetus was prenatally diagnosed as having a Y(nfqs) chromosome which was inherited from the father. With the QFQ technique, the Yqh was observed to be nonfluorescent and contained cytological satellites which were attached to the terminal long arm. The satellites were positively stained by the Ag-NOR technique suggesting that the NORs were active. A battery of DNA probes was used to characterise the Y(nfqs). Hybridisation experiments using a chromosome 15 specific classical satellite DNA probe (D15Z1) and a Yq telomere DNA probe showed that the additional satellited material on Yq originated from 15p, and that the Yq terminal region had been lost. This is the first reported case in which the origin of cytological satellites on Yq has been determined by FISH, but this does not imply that all satellited Y chromosomes are derived from 15p. However, the clinical significance of this Y(nfqs) chromosome remains obscure.