PMID- 17028389
OWN - NLM
STAT- MEDLINE
DCOM- 20070321
LR  - 20141225
VI  - 10
IP  - 1 Pt 2
DP  - 2006 Jan-Mar
TI  - [Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental 
      retardation and mild dysmorphic features].
PG  - 199-209
AB  - A 3-year-old girl with developmental delay, dysmorphic features, hypotonia and 
      microcephaly is presented. Fluorescence in situ hybridization (FISH) with 
      subtelomeric probes (Multiprobe Chromoprobe T System) revealed monosomy and 
      trisomy of subtelomeric regions 4p and 21q respectively. Clinical and pedigree 
      data were analyzed and the phenotype -genotype correlation for partial monosomy 
      4p and trisomy 21q identified in the proband is also presented.
FAU - Obersztyn, Ewa
AU  - Obersztyn E
AD  - Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 
      Warszawa, Poland. eobersztyn@imid.med.pl
FAU - Klapecki, Jakub
AU  - Klapecki J
FAU - Helias-Rodzewicz, Zofia
AU  - Helias-Rodzewicz Z
FAU - Bocian, Ewa
AU  - Bocian E
FAU - Mazurczak, Tadeusz
AU  - Mazurczak T
LA  - pol
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
TT  - Rodzinna aberracja subtelomerowa der(4)t(4p16.3;21q22.3) jako przyczyna 
      uposledzenia umyslowego i dyskretnych cech dysmorfii.
PL  - Poland
TA  - Med Wieku Rozwoj
JT  - Medycyna wieku rozwojowego
JID - 100928610
SB  - IM
MH  - Child, Preschool
MH  - Chromosome Aberrations
MH  - *Chromosomes, Human, Pair 21
MH  - *Chromosomes, Human, Pair 4
MH  - Developmental Disabilities/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Pedigree
MH  - Telomere/*genetics
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):199-209.