Two cases of terminal deletion of chromosome 13: clinical features, conventional and molecular cytogenetic analysis.
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.
Luquet
I
I
Laboratoire de Cytogénétique, Centre Hospitalier Universitaire, Dijon, France.
Favre
B
B
Nadal
N
N
Madinier
N
N
Khau Van Kien
P
P
Huet
F
F
Nivelon-Chevallier
A
A
Mugneret
F
F
D002675:Child, Preschool; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male