PMID- 23548553
OWN - NLM
STAT- MEDLINE
DCOM- 20130722
LR  - 20130528
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 139
IP  - 4
DP  - 2013
TI  - First report of a small supernumerary der(8;14) marker chromosome.
PG  - 284-8
LID - 10.1159/000348743 [doi]
AB  - Small supernumerary marker chromosomes (sSMC) are structurally abnormal 
      chromosomes, generally equal in size or smaller than a chromosome 20 of the same 
      metaphase spread. Most of them are unexpectedly detected in routine karyotype 
      analyses, and it is usually not easy to correlate them with a specific clinical 
      picture. A small group of sSMCs is derived from more than one chromosome, called 
      complex sSMCs. Here, we report on a patient with a de novo complex sSMC, derived 
      from chromosomes 8 and 14. Banding karyotype analysis, multiplex 
      ligation-dependent probe amplification (MLPA), single nucleotide polymorphism 
      (SNP)-based array, and fluorescence in situ hybridization (FISH) were performed 
      to investigate its origin. Array and FISH analyses revealed a 
      der(14)t(8;14)(p23.2;q22.1)dn. The propositus presents some clinical features 
      commonly found in patients with partial duplication or triplication of 8p and 
      14q. This is the first report describing a patient with a congenital 
      der(14)t(8;14)(p23.2;q22.1)dn sSMC.
CI  - Copyright (c) 2013 S. Karger AG, Basel.
FAU - Guilherme, R S
AU  - Guilherme RS
AD  - Department of Morphology and Genetics, Universidade Federal de Sao Paulo, Sao 
      Paulo, Brazil.
FAU - Dutra, A R N
AU  - Dutra AR
FAU - Perez, A B A
AU  - Perez AB
FAU - Takeno, S S
AU  - Takeno SS
FAU - Oliveira, M M
AU  - Oliveira MM
FAU - Kulikowski, L D
AU  - Kulikowski LD
FAU - Klein, E
AU  - Klein E
FAU - Hamid, A B
AU  - Hamid AB
FAU - Liehr, T
AU  - Liehr T
FAU - Melaragno, M I
AU  - Melaragno MI
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130323
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
RN  - 0 (FOXG1 protein, human)
RN  - 0 (Forkhead Transcription Factors)
RN  - 0 (Nerve Tissue Proteins)
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Chromosome Disorders/*genetics/pathology
MH  - Chromosomes, Human, Pair 14/*genetics
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - Forkhead Transcription Factors/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Multiplex Polymerase Chain Reaction
MH  - Nerve Tissue Proteins/genetics
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide
EDAT- 2013/04/04 06:00
MHDA- 2013/07/23 06:00
CRDT- 2013/04/04 06:00
PHST- 2012/11/19 00:00 [accepted]
PHST- 2013/04/04 06:00 [entrez]
PHST- 2013/04/04 06:00 [pubmed]
PHST- 2013/07/23 06:00 [medline]
AID - 000348743 [pii]
AID - 10.1159/000348743 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2013;139(4):284-8. doi: 10.1159/000348743. Epub 2013 Mar 
      23.