PMID- 10214505
OWN - NLM
STAT- MEDLINE
DCOM- 19990518
LR  - 20111117
IS  - 0003-3995 (Print)
IS  - 0003-3995 (Linking)
VI  - 42
IP  - 1
DP  - 1999
TI  - Two cases of terminal deletion of chromosome 13: clinical features, conventional 
      and molecular cytogenetic analysis.
PG  - 33-9
AB  - We report the cases of two unrelated patients with psychomotor retardation and 
      craniofacial abnormalities, in whom cytogenetic studies have revealed a terminal 
      deletion of chromosome 13 confirmed by fluorescence in situ hybridization (FISH). 
      This del(13)(q33.2) is the smallest terminal deletion of the 13q reported so far. 
      Interestingly enough, the serum level of coagulation factors VII and X, whose 
      genes are located in 13q34, were reduced in both patients. These cases illustrate 
      the difficulties in identifying precisely chromosome deletions and demonstrate 
      that FISH techniques allow to obtain a more precise correlation between clinical 
      phenotype and cytogenetic abnormalities.
FAU - Luquet, I
AU  - Luquet I
AD  - Laboratoire de Cytogenetique, Centre Hospitalier Universitaire, Dijon, France.
FAU - Favre, B
AU  - Favre B
FAU - Nadal, N
AU  - Nadal N
FAU - Madinier, N
AU  - Madinier N
FAU - Khau Van Kien, P
AU  - Khau Van Kien P
FAU - Huet, F
AU  - Huet F
FAU - Nivelon-Chevallier, A
AU  - Nivelon-Chevallier A
FAU - Mugneret, F
AU  - Mugneret F
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Netherlands
TA  - Ann Genet
JT  - Annales de genetique
JID - 0370562
SB  - IM
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 13
MH  - Craniofacial Abnormalities/*genetics
MH  - Female
MH  - *Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Male
EDAT- 1999/04/24 00:00
MHDA- 1999/04/24 00:01
CRDT- 1999/04/24 00:00
PHST- 1999/04/24 00:00 [pubmed]
PHST- 1999/04/24 00:01 [medline]
PHST- 1999/04/24 00:00 [entrez]
PST - ppublish
SO  - Ann Genet. 1999;42(1):33-9.