PMID- 20154457
OWN - NLM
STAT- MEDLINE
DCOM- 20100319
LR  - 20191027
IS  - 1345-4676 (Print)
IS  - 1345-4676 (Linking)
VI  - 77
IP  - 1
DP  - 2010 Feb
TI  - A case of severe mental and developmental retardation associated with 14q 
      terminal monosomy/5q terminal trisomy.
PG  - 40-4
AB  - I previously described the case of a 19 year-old female with severe mental 
      retardation, developmental retardation, microcephalus, short stature, bilateral 
      microphthalmia, ptosis and blepharophimosis(1). Now, I present clinical 
      descriptions of her half-siblings, who have a different father. Subtelomeric 
      fluorescence in situ hybridization (FISH) analysis of the proband demonstrated 5q 
      terminal trisomy and 14q terminal monosomy. I presume that her mother harbors a 
      balanced translocation between the terminal of chromosome 5q and 14q. I suggest 
      that familial cases of mental retardation and dysmorphic features should be 
      screened for terminal chromosomal abnormalities by FISH or comparative genomic 
      hybridization (CGH), even if G-banding analysis or high-resolution chromosome 
      analysis is normal.
FAU - Hirayama, Tsunenori
AU  - Hirayama T
AD  - Department of Pediatrics, Tokyo Metropolitan Higashiyamato Medical Center for the 
      Severely Disabled, Higashiyamato, Tokyo, Japan. tunezou@nms.ac.jp
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Japan
TA  - J Nippon Med Sch
JT  - Journal of Nippon Medical School = Nippon Ika Daigaku zasshi
JID - 100935589
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Adult
MH  - Child
MH  - *Chromosomes, Human, Pair 14
MH  - *Chromosomes, Human, Pair 5
MH  - Family Health
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - *Monosomy
MH  - Pedigree
MH  - Severity of Illness Index
MH  - *Trisomy
MH  - Young Adult
EDAT- 2010/02/16 06:00
MHDA- 2010/03/20 06:00
CRDT- 2010/02/16 06:00
PHST- 2010/02/16 06:00 [entrez]
PHST- 2010/02/16 06:00 [pubmed]
PHST- 2010/03/20 06:00 [medline]
AID - JST.JSTAGE/jnms/77.40 [pii]
AID - 10.1272/jnms.77.40 [doi]
PST - ppublish
SO  - J Nippon Med Sch. 2010 Feb;77(1):40-4. doi: 10.1272/jnms.77.40.