PMID- 8045561
OWN - NLM
STAT- MEDLINE
DCOM- 19940901
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 94
IP  - 2
DP  - 1994 Aug
TI  - Molecular cytogenetic analysis of a duplication Xp in a male: further delineation 
      of a possible sex influencing region on the X chromosome.
PG  - 149-53
AB  - We describe a male infant with severe mental retardation and autism with a 
      duplication of the short arm of the X chromosome. Chromosome painting confirmed 
      the origin of this X duplication. Molecular cytogenetic analysis with 
      fluorescence in situ hybridization (FISH) identified one copy of the zinc finger 
      protein on the X chromosome (ZFX) and two copies of the steroid sulfatase gene 
      (STS), further delineating the breakpoints. Based on cytogenetic and molecular 
      comparisons of cases from the literature of sex-reversal in dup(X),Y patients and 
      our patient, we suggest that a possible secondary sex-influencing gene involved 
      in the regulation of sex determination or testis morphogenesis is present at the 
      distal Xp21.1 to p21.2 region.
FAU - Rao, P N
AU  - Rao PN
AD  - Department of Pediatrics, Bowman Gray School of Medicine, Wake Forest University, 
      Winston-Salem, NC 27157.
FAU - Klinepeter, K
AU  - Klinepeter K
FAU - Stewart, W
AU  - Stewart W
FAU - Hayworth, R
AU  - Hayworth R
FAU - Grubs, R
AU  - Grubs R
FAU - Pettenati, M J
AU  - Pettenati MJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
SB  - IM
MH  - Autistic Disorder/genetics
MH  - Child, Preschool
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Sex Chromosome Aberrations/*genetics
MH  - *X Chromosome
EDAT- 1994/08/01 00:00
MHDA- 1994/08/01 00:01
CRDT- 1994/08/01 00:00
PHST- 1994/08/01 00:00 [pubmed]
PHST- 1994/08/01 00:01 [medline]
PHST- 1994/08/01 00:00 [entrez]
AID - 10.1007/BF00202860 [doi]
PST - ppublish
SO  - Hum Genet. 1994 Aug;94(2):149-53. doi: 10.1007/BF00202860.