PMID- 8004805
OWN - NLM
STAT- MEDLINE
DCOM- 19940719
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 45
IP  - 2
DP  - 1994 Feb
TI  - A woman with an apparent non-mosaic 45,X delivered a 46,X,der(X) liveborn female.
PG  - 93-6
AB  - A liveborn female with a phenotype suggestive of Down syndrome is reported. 
      Cytogenetic lymphocyte analysis showed a 46,X der(X) karyotype. Fluorescence in 
      situ hybridization (FISH) with a biotinylated probe specific for chromosome 21 
      showed no signal on the der(X). This marker was homogeneously painted using a 
      specific probe for X chromosome. In addition, FISH analysis detected telomeres on 
      the rearranged X. Therefore, the proband's karyotype was reevaluated as 
      46,X,del(X) (pter-->p22.2::p11.3-->qter). Cytogenetic analysis of 150 lymphocytes 
      in the mother disclosed a homogeneous 45,X karyotype. FISH analysis of interphase 
      nuclei using the X chromosome painting probe showed two domains of different 
      sizes in 0.8% of cells. This led us to study further metaphases in the mother. In 
      one out of 450 metaphases scored, after FISH with the X chromosome painting 
      probe, the del(X) was observed, confirming that the rearranged X chromosome found 
      in the newborn had segregated from a 45,X/46,X,del(X) mother.
FAU - Palka, G
AU  - Palka G
AD  - Istituti di Biologia e Genetica, Umana Universita di Chieti, Italy.
FAU - Calabrese, G
AU  - Calabrese G
FAU - Stuppia, L
AU  - Stuppia L
FAU - Guanciali Franchi, P
AU  - Guanciali Franchi P
FAU - Morizio, E
AU  - Morizio E
FAU - Peila, R
AU  - Peila R
FAU - Antonucci, A
AU  - Antonucci A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Cells, Cultured
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - *Monosomy
MH  - Mosaicism
MH  - Phenotype
MH  - *Sex Chromosome Aberrations
MH  - *X Chromosome
EDAT- 1994/02/01 00:00
MHDA- 1994/02/01 00:01
CRDT- 1994/02/01 00:00
PHST- 1994/02/01 00:00 [pubmed]
PHST- 1994/02/01 00:01 [medline]
PHST- 1994/02/01 00:00 [entrez]
AID - 10.1111/j.1399-0004.1994.tb04001.x [doi]
PST - ppublish
SO  - Clin Genet. 1994 Feb;45(2):93-6. doi: 10.1111/j.1399-0004.1994.tb04001.x.