PMID- 16530711
OWN - NLM
STAT- MEDLINE
DCOM- 20090416
LR  - 20060313
IS  - 1769-7212 (Print)
IS  - 1769-7212 (Linking)
VI  - 49
IP  - 2
DP  - 2006 Mar-Apr
TI  - Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis.
PG  - 141-9
AB  - Among the structural abnormalities affecting the human Y chromosome, dicentric 
      chromosomes are the most common. A wide spectrum of phenotypes of patients with a 
      dicentric Y chromosome exists, ranging from almost males through mixed gonadal 
      dysgenesis to females with Turner syndrome. Here, we describe an infant with 
      mixed gonadal dysgenesis and mosaic karyotype 
      45,X/46,X,idic(Y)(qter-->p11.32:p11.32-->qter)/47,X,+2idic(Y) 
      (qter-->p11.32:p11.32-->qter)/47,XYY. This was demonstrated by fluorescence in 
      situ hybridization (FISH) analysis with whole Y chromosome painting (WCP-Y) 
      probe. Molecular studies were performed on genomic DNA extracted from peripheral 
      blood lymphocytes. To examine the sex determined region (SRY), azoospermia factor 
      (AZF) region and deletion in azoospermia gene (DAZ), polymerase chain reaction 
      (PCR) analyses were done with sequence-tagged site (STS) primers of 20 loci along 
      the Y chromosome (SRY, DYS271, DYS148, DYS273, KALY, DYS212, SMCY, DYS215, 
      DYS218, DYS219, DYS221, DYS223, DYS224, DYF51S1, DYS236, DAZ, DYS240), and all 
      tested loci were found positive. Because of the possibility of a mutation in the 
      SRY gene, we analyzed the PCR fragment by DNA sequencing and did not observe any 
      mutation or nucleotide alteration. We present detailed molecular-cytogenetic 
      characterization of a patient with idic(Y)(p11.32), and results are discussed 
      with the previously described patients. As far as we know, this is the fifth 
      report of a 46,X, idic(Y)(p11.32) karyotype and the first presentation with mixed 
      gonadal dysgenesis and isodicentric Y. Since the correlation between phenotype 
      and karyotype is not yet well defined, the clinical reports will be helpful in 
      defining the phenotypic range of this chromosomal abnormality.
FAU - Aktas, Dilek
AU  - Aktas D
AD  - Department of Genetics, Hacettepe University Medical School, Ankara, Turkey.
FAU - Alikasifoglu, Mehmet
AU  - Alikasifoglu M
FAU - Gonc, Nazli
AU  - Gonc N
FAU - Senocak, Mehmet E
AU  - Senocak ME
FAU - Tuncbilek, Ergul
AU  - Tuncbilek E
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20050701
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Cells, Cultured
MH  - *Chromosome Aberrations
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Y/*genetics
MH  - Cytogenetic Analysis
MH  - Female
MH  - Genetic Markers
MH  - Gonadal Dysgenesis, Mixed/*genetics/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
EDAT- 2006/03/15 09:00
MHDA- 2009/04/17 09:00
CRDT- 2006/03/15 09:00
PHST- 2005/04/19 00:00 [received]
PHST- 2005/05/17 00:00 [accepted]
PHST- 2006/03/15 09:00 [pubmed]
PHST- 2009/04/17 09:00 [medline]
PHST- 2006/03/15 09:00 [entrez]
AID - S1769-7212(05)00113-8 [pii]
AID - 10.1016/j.ejmg.2005.05.012 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2006 Mar-Apr;49(2):141-9. doi: 10.1016/j.ejmg.2005.05.012. Epub 
      2005 Jul 1.