PMID- 9885026
OWN - NLM
STAT- MEDLINE
DCOM- 19990311
LR  - 20190905
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 18
IP  - 12
DP  - 1998 Dec
TI  - Prenatal identification of mos 45,X/46,X,+mar in a normal male baby by 
      cytogenetic and molecular analysis.
PG  - 1316-22
AB  - 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.
FAU - Hoshi, N
AU  - Hoshi N
AD  - Department of Obstetrics and Gynaecology, Hokkaido University School of Medicine, 
      Sapporo, Japan. nobhoshi@med.hokudai.ac.jp
FAU - Tonoki, H
AU  - Tonoki H
FAU - Handa, Y
AU  - Handa Y
FAU - Fujino, T
AU  - Fujino T
FAU - Okuyama, K
AU  - Okuyama K
FAU - Koga, Y
AU  - Koga Y
FAU - Matsumoto, Y
AU  - Matsumoto Y
FAU - Yamada, T
AU  - Yamada T
FAU - Yamada, H
AU  - Yamada H
FAU - Kishida, T
AU  - Kishida T
FAU - Sagawa, T
AU  - Sagawa T
FAU - Fujieda, K
AU  - Fujieda K
FAU - Nakahori, Y
AU  - Nakahori Y
FAU - Kant, J A
AU  - Kant JA
FAU - Fujimoto, S
AU  - Fujimoto S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (DNA Probes)
RN  - 3XMK78S47O (Testosterone)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - Child, Preschool
MH  - DNA/analysis
MH  - DNA Probes/chemistry
MH  - Female
MH  - *Genetic Techniques
MH  - Humans
MH  - Infant, Newborn
MH  - Infant, Premature
MH  - Karyotyping
MH  - Male
MH  - Mosaicism/*genetics
MH  - Polymerase Chain Reaction
MH  - Pregnancy
MH  - Sex Chromosome Aberrations/*diagnosis/*genetics
MH  - Testosterone/blood
MH  - X Chromosome/*genetics
MH  - Y Chromosome/genetics
EDAT- 1999/01/13 03:01
MHDA- 2000/06/20 09:00
CRDT- 1999/01/13 03:01
PHST- 1999/01/13 03:01 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1999/01/13 03:01 [entrez]
AID - 10.1002/(SICI)1097-0223(199812)18:12<1316::AID-PD447>3.0.CO;2-4 [pii]
AID - 10.1002/(sici)1097-0223(199812)18:12<1316::aid-pd447>3.0.co;2-4 [doi]
PST - ppublish
SO  - Prenat Diagn. 1998 Dec;18(12):1316-22. doi: 
      10.1002/(sici)1097-0223(199812)18:12<1316::aid-pd447>3.0.co;2-4.