PMID- 23031812
OWN - NLM
STAT- MEDLINE
DCOM- 20130419
LR  - 20220331
IS  - 1879-0038 (Electronic)
IS  - 0378-1119 (Linking)
VI  - 513
IP  - 2
DP  - 2013 Jan 25
TI  - Partial monosomy 21 (q11.2-->q21.3) combined with 3p25.3-->pter monosomy due to an 
      unbalanced translocation in a patient presenting dysmorphic features and 
      developmental delay.
PG  - 301-4
LID - S0378-1119(12)01074-8 [pii]
LID - 10.1016/j.gene.2012.09.008 [doi]
AB  - We describe a female patient of 1 year and 5 months-old, referred for genetic 
      evaluation due to neuropsychomotor delay, hearing impairment and dysmorphic 
      features. The patient presents a partial chromosome 21 monosomy (q11.2-->q21.3) in 
      combination with a chromosome 3p terminal monosomy (p25.3-->pter) due to an 
      unbalanced de novo translocation. The translocation was confirmed by fluorescence 
      in situ hybridization (FISH) and the breakpoints were mapped with high resolution 
      array. After the combined analyses with these techniques the final karyotype was 
      defined as 45,XX,der(3)t(3;21)(p25.3;q21.3)dn,-21.ish 
      der(3)t(3;21)(RP11-329A2-,RP11-439F4-,RP11-95E11-,CTB-63H24+).arr 
      3p26.3p25.3(35,333-10,888,738))x1,21q11.2q21.3(13,354,643-27,357,765)x1. Analysis 
      of microsatellite DNA markers pointed to a paternal origin for the chromosome 
      rearrangement. This is the first case described with a partial proximal monosomy 
      21 combined with a 3p terminal monosomy due to a de novo unbalanced 
      translocation.
CI  - Copyright (c) 2012 Elsevier B.V. All rights reserved.
FAU - dos Santos, Ana Paula
AU  - dos Santos AP
AD  - Department of Medical Genetics, Faculty of Medical Sciences, University of 
      Campinas, UNICAMP, Campinas, SP, Brazil.
FAU - Vieira, Tarsis Paiva
AU  - Vieira TP
FAU - Simioni, Milena
AU  - Simioni M
FAU - Monteiro, Fabiola Paoli
AU  - Monteiro FP
FAU - Gil-da-Silva-Lopes, Vera Lucia
AU  - Gil-da-Silva-Lopes VL
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120929
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - Chromosome 21 monosomy
RN  - Chromosome 3, monosomy 3p
SB  - IM
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 21
MH  - Chromosomes, Human, Pair 3
MH  - Developmental Disabilities/etiology/*genetics
MH  - Face/abnormalities
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Microsatellite Repeats
MH  - *Monosomy
MH  - *Translocation, Genetic
EDAT- 2012/10/04 06:00
MHDA- 2013/04/23 06:00
CRDT- 2012/10/04 06:00
PHST- 2012/06/15 00:00 [received]
PHST- 2012/08/28 00:00 [revised]
PHST- 2012/09/03 00:00 [accepted]
PHST- 2012/10/04 06:00 [entrez]
PHST- 2012/10/04 06:00 [pubmed]
PHST- 2013/04/23 06:00 [medline]
AID - S0378-1119(12)01074-8 [pii]
AID - 10.1016/j.gene.2012.09.008 [doi]
PST - ppublish
SO  - Gene. 2013 Jan 25;513(2):301-4. doi: 10.1016/j.gene.2012.09.008. Epub 2012 Sep 
      29.