title: Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome.
abstract: A 45,X karyotype was found in a boy with dysmorphic features, hypoglycaemia and pancytopenia. DNA analysis showed the presence of the Y-chromosomal DNA sequences SRY, ZFY, DYZ4, DYZ3 and DYS1. Using fluorescent in situ hybridization, we located DYZ4 and DYZ3 on chromosome 11qter and concluded that a de novo translocation (Y;11) (q11.2;q24) with a deletion of 11q24----qter and a deletion of Yq11.2----Yqter were present; Jacobsen syndrome and azoospermia are associated with these deletions. Signs of Jacobsen syndrome were observed in the patient.
authors.affiliation: Department of Clinical Genetics, Academic Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.
authors.forename: J O
authors.initials: JO
authors.lastname: Van Hemel
authors.forename: B
authors.initials: B
authors.lastname: Eussen
authors.forename: E
authors.initials: E
authors.lastname: Wesby-van Swaay
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D006801:Humans; D007003:Hypoglycemia / Q000235:genetics; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D010198:Pancytopenia / Q000235:genetics; D011418:Prophase; D013577:Syndrome; D014178:Translocation, Genetic; D014998:Y Chromosome