PMID- 21848017
OWN - NLM
STAT- MEDLINE
DCOM- 20111013
LR  - 20110818
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 22
IP  - 2
DP  - 2011
TI  - A rare case of monosomy 18p: translocation between chromosomes 18 and 21.
PG  - 227-31
AB  - A rare case of monosomy 18p with molecular cytogenetic characterization of 18;21 
      whole arm translocation is presented. An 8-year-old gril with mental deficiency 
      and growth deficiency was the child of a 45-year-old healthy mother and 
      50-year-old nonconsanguineous father with unremarkable prenatal history. She had 
      a round face, flat nasal bridge, micrognathia and hypotonia. Cytogenetic studies 
      revealed de novo 45,XX,del(18)t(18;21) karyotype, which was confirmed by 
      fluorescence in situ hybridization (FISH).
FAU - Tos, T
AU  - Tos T
AD  - Department of Medical Genetics, Dr. Sami Ulus Children's Health and Diseases 
      Training and Research Hospital, Ankara, Turkey.
FAU - Karaman, A
AU  - Karaman A
FAU - Aycan, Z
AU  - Aycan Z
FAU - Tukun, A
AU  - Tukun A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child
MH  - *Chromosomes, Human, Pair 18
MH  - *Chromosomes, Human, Pair 21
MH  - Cytogenetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Monosomy/*diagnosis
MH  - Translocation, Genetic
EDAT- 2011/08/19 06:00
MHDA- 2011/10/14 06:00
CRDT- 2011/08/19 06:00
PHST- 2011/08/19 06:00 [entrez]
PHST- 2011/08/19 06:00 [pubmed]
PHST- 2011/10/14 06:00 [medline]
PST - ppublish
SO  - Genet Couns. 2011;22(2):227-31.