PMID- 10767487
OWN - NLM
STAT- MEDLINE
DCOM- 20000512
LR  - 20191103
IS  - 0188-4409 (Print)
IS  - 0188-4409 (Linking)
VI  - 31
IP  - 1
DP  - 2000 Jan-Feb
TI  - Functional Xp disomy and hypomelanosis of Ito.
PG  - 88-92
AB  - BACKGROUND: Hypomelanosis of Ito (HI) is a neurocutaneous phenotype that reflects 
      different mosaicisms, including functional imbalances secondary to chromosome-X 
      inactivation patterns in certain X;autosome translocation carriers. METHODS: We 
      assessed X inactivation patterns by means of the human androgen receptor (HUMARA) 
      assay and BrdU labeling in affected and unaffected skin of a young female with HI 
      and a de novo t(X;13)(Xp13q;Xq13p). PCR analysis was carried out in DNA extracted 
      from uncultured and cultured skin, whereas the BrdU replication patterns were 
      sought in cultured fibroblasts. Parental DNA was also tested. Fluorescence in 
      situ hybridization (FISH) with X and 13/21 centromere probes (DXZ2 and 
      D13Z1/D21Z1) and a cosmid for the X inactivation center were also performed to 
      refine breakpoint assignments. RESULTS: An X inactivation pattern implying 
      functional Xpter-->q11 disomy was found in DNA extracted from uncultured 
      hypopigmented skin, whereas preferential inactivation of the normal X was 
      observed in uncultured normal skin as well as in cultured fibroblasts (after one 
      passage) from both affected and unaffected skin areas. PCR analysis also showed 
      paternal origin of the translocation. BrdU labeling of metaphases from 
      hypopigmented and normal skin primary cultures showed der(Xq13p) to be inactive 
      in about 25% of the cells. FISH revealed that der(Xp13q) had a compound 
      centromere, whereas der(Xq13p) retained 13 centromere repeats but lacked X 
      centromere sequences. Hence, breakpoints were assigned to Xq11 and 13q10. The X 
      inactivation center cosmid gave a signal on both normal X and der(Xp13q), 
      indicating that the inactivation center was not disrupted by the translocation. 
      CONCLUSIONS: These findings confirm that mosaic functional Xp disomy, rather than 
      disruption of X-linked genes, is associated with HI and involvement of the 
      central nervous system (CNS) in some carriers of a structurally balanced 
      X;autosome translocation.
FAU - Rivera, H
AU  - Rivera H
AD  - Division de Genetica, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, 
      Jalisco, Mexico. hrivera2udgserv.cencar.udg.mx
FAU - Correa-Cerro, L S
AU  - Correa-Cerro LS
FAU - Robinson, D O
AU  - Robinson DO
FAU - Crolla, J A
AU  - Crolla JA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Arch Med Res
JT  - Archives of medical research
JID - 9312706
SB  - IM
MH  - Chromosomes, Human, Pair 13
MH  - Dosage Compensation, Genetic
MH  - Female
MH  - Humans
MH  - Karyotyping
MH  - Piebaldism/*genetics
MH  - Polymerase Chain Reaction
MH  - Translocation, Genetic
MH  - *X Chromosome
EDAT- 2000/04/18 09:00
MHDA- 2000/05/20 09:00
CRDT- 2000/04/18 09:00
PHST- 2000/04/18 09:00 [pubmed]
PHST- 2000/05/20 09:00 [medline]
PHST- 2000/04/18 09:00 [entrez]
AID - S0188-4409(99)00081-8 [pii]
AID - 10.1016/s0188-4409(99)00081-8 [doi]
PST - ppublish
SO  - Arch Med Res. 2000 Jan-Feb;31(1):88-92. doi: 10.1016/s0188-4409(99)00081-8.