title: Prenatal identification of mos 45,X/46,X,+mar in a normal male baby by cytogenetic and molecular analysis.
abstract: We report a case of mos 45,X/46,X,+mar, diagnosed prenatally by amniocentesis, whose physical examination, including external and internal organs, along with serum testosterone values were normal five years after delivery. The mosaic karyotype was seen in 146 of 240 cells examined (amniotic fluid cells, 110/65; placental chorionic villi: 5/4; cord blood, 21/81; cultured skin fibroblasts, 10/90) from 386 metaphases, and the marker chromosome appeared as a small non-fluorescent acrocentric chromosome. All autosomes appeared normal, and no normal Y chromosome could be demonstrated. Analysis of 26 Y-chromosome loci by molecular techniques such as PCR, Southern analysis using multiple Y-specific DNA probes, and Hae III restriction endonuclease assessment of male-specific repeated DNA in the heterochromatic region of the Y chromosome, and fluorescence in situ hybridization (FISH), revealed the marker was derived from a Y chromosome including p terminal to q11.23, and paracentric inversion in the remaining Y long arm. The formation of testes can be considered as existence of SRY (sex-determining region of Y) as a testis-determining factor. The present report illustrates the importance of FISH and molecular techniques as a complement to cytogenetic methods for accurate identification and characterization of chromosome rearrangements in prenatal diagnosis.
authors.affiliation: Department of Obstetrics and Gynaecology, Hokkaido University School of Medicine, Sapporo, Japan. nobhoshi@med.hokudai.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Hoshi
authors.forename: H
authors.initials: H
authors.lastname: Tonoki
authors.forename: Y
authors.initials: Y
authors.lastname: Handa
authors.forename: T
authors.initials: T
authors.lastname: Fujino
authors.forename: K
authors.initials: K
authors.lastname: Okuyama
authors.forename: Y
authors.initials: Y
authors.lastname: Koga
authors.forename: Y
authors.initials: Y
authors.lastname: Matsumoto
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Yamada
authors.forename: T
authors.initials: T
authors.lastname: Kishida
authors.forename: T
authors.initials: T
authors.lastname: Sagawa
authors.forename: K
authors.initials: K
authors.lastname: Fujieda
authors.forename: Y
authors.initials: Y
authors.lastname: Nakahori
authors.forename: J A
authors.initials: JA
authors.lastname: Kant
authors.forename: S
authors.initials: S
authors.lastname: Fujimoto
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D015342:DNA Probes / Q000737:chemistry; D005260:Female; D005821:Genetic Techniques; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics*; D013739:Testosterone / Q000097:blood; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics
chemical_list: D015342:DNA Probes; D013739:Testosterone; D004247:DNA