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Prenatal identification of mos 45, X/46, X, +mar in a normal male baby by cytogenetic and molecular analysis
Author(s) -
Hoshi Nobuhiko,
Tonoki Hidefumi,
Handa Yasushi,
Fujino Takafumi,
Okuyama Kazuhiko,
Koga Yasutsugu,
Matsumoto Yoshinori,
Yamada Takahiro,
Yamada Hideto,
Kishida Tatsuro,
Sagawa Tadashi,
Fujieda Kenji,
Nakahori Yutaka,
Kant Jeffrey A.,
Fujimoto Seiichiro
Publication year - 1998
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199812)18:12<1316::aid-pd447>3.0.co;2-4
Subject(s) - karyotype , biology , autosome , y chromosome , fluorescence in situ hybridization , amniocentesis , microbiology and biotechnology , x chromosome , testis determining factor , marker chromosome , heterochromatin , restriction enzyme , chromosome 9 , genetics , cytogenetics , prenatal diagnosis , chromosomal inversion , chromosome , fetus , dna , pregnancy , gene
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. Copyright © 1998 John Wiley & Sons, Ltd.