PMID- 17028390
OWN - NLM
STAT- MEDLINE
DCOM- 20070321
LR  - 20141225
VI  - 10
IP  - 1 Pt 2
DP  - 2006 Jan-Mar
TI  - [Characterization of marker chromosomes using molecular cytogenetic methods in 
      patients with mental retardation and congenital malformations].
PG  - 211-25
AB  - INTRODUCTION: Until recently, great variety of marker chromosomes and 
      difficulties with their identification have presented a problem for cytogenetic 
      and clinical interpretation of the karyotype. At present, molecular cytogenetic 
      methods of chromosome analysis enable precise characterization of such 
      abnormalities providing knowledge necessary for estimation of their genetic risk. 
      AIM: The aim of the study was molecular cytogenetic characterization of marker 
      chromosomes recognized in three patients, an analysis of clinical features in 
      relation to the abnormality and estimation of genetic risk of identified markers. 
      PATIENTS AND METHODS: Karyotypes of three phenotypically abnormal patients were 
      estimated in lymphocytes from peripheral blood by G banding analysis. Marker 
      chromosomes were identified by fluorescence in situ hybridization (FISH), 
      multiplex FISH, multicolor band and high resolution comparative genomic 
      hybridization methods. RESULTS: Marker chromosomes were identified as inv 
      dup(22)(pter->q11.2::q11.2->pter), der(8)(:p22->q11.2:), der(2l)(:pter->q21.3:) 
      and der(19)(:p11->q13.1). All of them contained euchromatic sequences. First 
      marker, an inverted duplication of chromosome 22q11.2 corresponding to tetrasomy 
      of this chromosome region was recognized in a child with partial cat eye 
      syndrome. Two further markers derived from chromosomes 8 and 21 were found in a 
      child with mosaic karyotype and clinical features of trisomy 8p. In the third 
      case additional chromosome material was derived from chromosome 19 and it was 
      found in a patient with mild mental retardation and clinical features of ovary 
      dysgenesis. Genetic risk of identified marker chromosomes except for mar(19) was 
      estimated as high. CONCLUSIONS: Our results provide further evidence for 
      diagnostic value of molecular cytogenetic methods. They also confirmed the 
      general opinion of the high risk of phenotypic abnormalities in the carriers of 
      marker chromosomes containing euchromatic sequences.
FAU - Bocian, Ewa
AU  - Bocian E
AD  - Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 
      Warszawa, Poland. ebocian@imid.med.pl
FAU - Nowakowska, Beata
AU  - Nowakowska B
FAU - Obersztyn, Ewa
AU  - Obersztyn E
FAU - Borg, Katarzyna
AU  - Borg K
FAU - Chudoba, Ilse
AU  - Chudoba I
FAU - Kostyk, Ewa
AU  - Kostyk E
FAU - Kruczek, Anna
AU  - Kruczek A
FAU - Pietrzyk, Jacek
AU  - Pietrzyk J
FAU - Mazurczak, Tadeusz
AU  - Mazurczak T
LA  - pol
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
TT  - Charakterystyka chromosomow markerowych metodami cytogenetyki molekularnej u 
      pacjentow z cechami niepelnosprawnosci intelektualnej i wspolistnieniem wad 
      rozwojowych.
PL  - Poland
TA  - Med Wieku Rozwoj
JT  - Medycyna wieku rozwojowego
JID - 100928610
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - *Aneuploidy
MH  - Child, Preschool
MH  - *Chromosomes, Human
MH  - Chromosomes, Human, Pair 19
MH  - Chromosomes, Human, Pair 21
MH  - Chromosomes, Human, Pair 22
MH  - Chromosomes, Human, Pair 8
MH  - Developmental Disabilities/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Infant
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Male
EDAT- 2006/10/10 09:00
MHDA- 2007/03/22 09:00
CRDT- 2006/10/10 09:00
PHST- 2006/10/10 09:00 [pubmed]
PHST- 2007/03/22 09:00 [medline]
PHST- 2006/10/10 09:00 [entrez]
PST - ppublish
SO  - Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):211-25.