PMID- 15666311
OWN - NLM
STAT- MEDLINE
DCOM- 20050516
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 133A
IP  - 2
DP  - 2005 Mar 1
TI  - Supernumerary ring chromosome 20 in a mother and her child.
PG  - 193-6
AB  - The authors report a familial case of mosaicism for an extra ring 20, identified 
      by fluorescence in situ hybridization (FISH), in a mother and her child. In spite 
      of the fact that both patients had clinical abnormalities, the more severe 
      phenotype present in the child was probably due to the higher percentage of 
      abnormal cells. To our knowledge, this is the first report of a familial extra 
      ring 20 mosaicism.
CI  - (c) 2005 Wiley-Liss, Inc.
FAU - Pinto, M R
AU  - Pinto MR
AD  - Instituto de Genetica Medica Dr. Jacinto de Magalhaes, Praca Pedro Nunes 88, 
      4050-466 Porto, Portugal. maxima.pinto@igm.min-saude.pt
FAU - Fonseca e Silva, M L
AU  - Fonseca e Silva ML
FAU - Aguiar, J
AU  - Aguiar J
FAU - Quelhas, I
AU  - Quelhas I
FAU - Lima, M R
AU  - Lima MR
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/genetics/pathology
MH  - Adult
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 20/*genetics
MH  - Face/abnormalities
MH  - Female
MH  - Foot Deformities, Congenital/pathology
MH  - Hand Deformities, Congenital/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Mosaicism
MH  - Mothers
MH  - *Ring Chromosomes
RF  - 14
EDAT- 2005/01/25 09:00
MHDA- 2005/05/17 09:00
CRDT- 2005/01/25 09:00
PHST- 2005/01/25 09:00 [pubmed]
PHST- 2005/05/17 09:00 [medline]
PHST- 2005/01/25 09:00 [entrez]
AID - 10.1002/ajmg.a.30532 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Mar 1;133A(2):193-6. doi: 10.1002/ajmg.a.30532.