PMID- 19515099
OWN - NLM
STAT- MEDLINE
DCOM- 20091214
LR  - 20111117
IS  - 1365-2362 (Electronic)
IS  - 0014-2972 (Linking)
VI  - 39
IP  - 8
DP  - 2009 Aug
TI  - Unbalanced translocation in an adult patient with premature ovarian failure and 
      mental retardation detected by spectral karyotyping and array-comparative genomic 
      hybridization.
PG  - 729-37
LID - 10.1111/j.1365-2362.2009.02141.x [doi]
AB  - BACKGROUND: There are only three cases of unbalanced translocation (X;1) reported 
      in childhood in the literature, while no such phenotypic information is available 
      in adults. MATERIALS AND METHODS: To delineate the phenotype-genotype 
      relationship of unbalanced translocation (X;1) in adulthood, we reported here a 
      20-year-old female with an unbalanced translocation (X;1) which was determined by 
      spectral karyotyping, array-comparative genomic hybridization and subtelomeric 
      fluorescence in situ hybridization (FISH). RESULTS: The phenotype of partial 
      trisomy 1 and partial monosomy X of the present case was much attenuated, 
      including premature ovarian failure, mental retardation, class I obesity, mild 
      dysmorphism and delayed secondary sexual characteristics. The breakpoints of the 
      unbalanced translocation were accurately located at Xq28 and 1q32.1. The large 
      amplification on Chromosome 1 q arm was found to involve 312 genes and the 
      deletion on Chromosome X q arm also involved 141 genes. Overall, genes associated 
      with physiological process (47 genes), cellular process (33), development (23), 
      response to stimulus (1) and reproduction (1) were observed in the amplification 
      on Chromosome 1 q arm. In addition, genes related to physiological process (23 
      genes), cellular process (13), development (6) and response to stimulus (2) were 
      observed in the large deletion on chromosome X q arm. Late-replication studies 
      revealed the existence of skewed X inactivation in the derivative X chromosome. 
      CONCLUSIONS: The phenotype of partial monosomy X and partial trisomy 1q is much 
      attenuated in case of unbalanced translocation (X;1) in adulthood probably owing 
      to skewed X inactivation in derivative X chromosome.
FAU - Guo, Q S
AU  - Guo QS
AD  - Department of Maternal and Fetal Medicine, The Obstetrics & Gynecology Hospital, 
      Fudan University, 419 Fangxie Road, Shanghai, China.
FAU - Qin, S Y
AU  - Qin SY
FAU - Zhou, S F
AU  - Zhou SF
FAU - He, L
AU  - He L
FAU - Ma, D
AU  - Ma D
FAU - Zhang, Y P
AU  - Zhang YP
FAU - Xiong, Y
AU  - Xiong Y
FAU - Peng, T
AU  - Peng T
FAU - Cheng, Y
AU  - Cheng Y
FAU - Li, X T
AU  - Li XT
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20090605
PL  - England
TA  - Eur J Clin Invest
JT  - European journal of clinical investigation
JID - 0245331
SB  - IM
EIN - Eur J Clin Invest. 2009 Dec;39(12):1114
MH  - Adult
MH  - Chromosomes, Human, X/*genetics
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Intellectual Disability/*genetics
MH  - Phenotype
MH  - Primary Ovarian Insufficiency/*genetics
MH  - Spectral Karyotyping
MH  - Translocation, Genetic/*genetics
MH  - Young Adult
EDAT- 2009/06/12 09:00
MHDA- 2009/12/16 06:00
CRDT- 2009/06/12 09:00
PHST- 2009/06/12 09:00 [entrez]
PHST- 2009/06/12 09:00 [pubmed]
PHST- 2009/12/16 06:00 [medline]
AID - ECI2141 [pii]
AID - 10.1111/j.1365-2362.2009.02141.x [doi]
PST - ppublish
SO  - Eur J Clin Invest. 2009 Aug;39(8):729-37. doi: 10.1111/j.1365-2362.2009.02141.x. 
      Epub 2009 Jun 5.