PMID- 11343332
OWN - NLM
STAT- MEDLINE
DCOM- 20010712
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 101
IP  - 1
DP  - 2001 Jun 1
TI  - Cytogenetic and molecular characterization of two isodicentric Y chromosomes.
PG  - 20-5
AB  - We report the results of detailed molecular-cytogenetic studies of two 
      isodicentric Y [idic(Y)] chromosomes identified in patients with complex mosaic 
      karyotypes. We used fluorescence in situ hybridization (FISH) and polymerase 
      chain reaction (PCR) to determine the structure and genetic content of the 
      abnormal chromosomes. In the first patient, classical cytogenetics and FISH 
      analysis with Y chromosome-specific probes showed in peripheral blood lymphocytes 
      a karyotype with 4 cell lines: 
      45,X[128]/46,X,+idic(Y)(p11.32)[65]/47,XY,+idic(Y)(p11.32)[2]/47,X,+2idic(Y)(p11.32)[1]. 
      No Y chromosome material was found in the removed gonads. For precise 
      characterization of the Yp breakpoint, FISH and fiberFISH analysis, using a 
      telomeric probe and a panel of cosmid probes from the pseudoautosomal region 
      PAR1, was performed. The results showed that the breakpoint maps approximately 
      1,000 Kb from Ypter. The second idic(Y) chromosome was found in a boy with mild 
      mental retardation, craniofacial anomalies, and the karyotype in lymphocytes 
      47,X,+idic(Y)(q11.23),+i(Y)(p10)[77]/46,X,+i(Y)(p10)[23]. To our knowledge, such 
      an association has not been previously described. FISH and PCR analysis indicated 
      the presence of at least two copies of the SRY gene in all analyzed cells. Using 
      17 PCR primers, the Yq breakpoint was shown to map between sY123 (DYS214) and 
      sY121 (DYS212) loci in interval 5O in AZFb region. Possible mechanisms of 
      formation of abnormal Y chromosomes and karyotype-phenotype correlations are 
      discussed.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Stankiewicz, P
AU  - Stankiewicz P
AD  - Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. 
      p.stankiewicz@imid.med.pl
FAU - Helias-Rodzewicz, Z
AU  - Helias-Rodzewicz Z
FAU - Jakubow-Durska, K
AU  - Jakubow-Durska K
FAU - Bocian, E
AU  - Bocian E
FAU - Obersztyn, E
AU  - Obersztyn E
FAU - Rappold, G A
AU  - Rappold GA
FAU - Mazurczak, T
AU  - Mazurczak T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Cell Line
MH  - Cytogenetic Analysis
MH  - DNA/analysis
MH  - Female
MH  - Genotype
MH  - Gonadal Dysgenesis, Mixed/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Infant, Newborn
MH  - *Isochromosomes
MH  - Karyotyping
MH  - Mosaicism/genetics
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Sex Chromosome Aberrations/*genetics
MH  - Y Chromosome/*genetics
EDAT- 2001/05/09 10:00
MHDA- 2001/07/13 10:01
CRDT- 2001/05/09 10:00
PHST- 2001/05/09 10:00 [pubmed]
PHST- 2001/07/13 10:01 [medline]
PHST- 2001/05/09 10:00 [entrez]
AID - 10.1002/ajmg.1304 [pii]
AID - 10.1002/ajmg.1304 [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 Jun 1;101(1):20-5. doi: 10.1002/ajmg.1304.