PMID- 9727744
OWN - NLM
STAT- MEDLINE
DCOM- 19981103
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 54
IP  - 1
DP  - 1998 Jul
TI  - Functional mosaic trisomy of 1q12-->1q21 resulting from X-autosome insertion 
      translocation with random inactivation.
PG  - 70-3
AB  - Cytogenetic studies of a 16-year-old female with behaviour and learning problems 
      revealed that one X chromosome had additional material inserted at Xq21. 
      Fluorescence in situ hybridization (FISH) analysis showed that the inserted 
      segment contained heterochromatin and adjacent euchromatin of chromosome 1 
      origin. The karyotype of this patient was established as: 
      46,X,der(X)ins(X;?)(q21;?).ish der(X) ins(X;1)(q21;q12q21)(wcp1+). Chromosome 
      replication studies demonstrated a random pattern of X inactivation, suggesting 
      that the inserted material may be too 'small' to skew lyonization. The 
      consequences of this abnormal X chromosome in relation to the clinical phenotype 
      are discussed.
FAU - Vust, A
AU  - Vust A
AD  - Division of Laboratory Medicine and Pathology, Health Sciences Centre, University 
      of Manitoba, Winnipeg, Canada.
FAU - Riordan, D
AU  - Riordan D
FAU - Wickstrom, D
AU  - Wickstrom D
FAU - Chudley, A E
AU  - Chudley AE
FAU - Dawson, A J
AU  - Dawson AJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Adolescent
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 1
MH  - *Dosage Compensation, Genetic
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - Mental Disorders/*genetics
MH  - Mosaicism/genetics
MH  - *Translocation, Genetic
MH  - *Trisomy
MH  - *X Chromosome
EDAT- 1998/09/04 00:00
MHDA- 1998/09/04 00:01
CRDT- 1998/09/04 00:00
PHST- 1998/09/04 00:00 [pubmed]
PHST- 1998/09/04 00:01 [medline]
PHST- 1998/09/04 00:00 [entrez]
AID - 10.1111/j.1399-0004.1998.tb03697.x [doi]
PST - ppublish
SO  - Clin Genet. 1998 Jul;54(1):70-3. doi: 10.1111/j.1399-0004.1998.tb03697.x.