Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome.
We report on a patient with a multiple congenital abnormalities/mental retardation (MCA/MR) syndrome including facial abnormalities, agenesis of the corpus callosum, heart defect, 1st ray anomalies of the upper limb, and ambiguous genitalia, whose phenotype overlaps a previous description of XK syndrome. The patient has a ring chromosome (13) with deletion 13q32-qter. Molecular analysis demonstrated loss of the region from D13S317 to D13S285 and a paternal origin of the anomaly.
Guala
A
A
Divisione di Pediatria, Ospedale Civile di Vigevano, Pavia, Italy.
Dellavecchia
C
C
Mannarino
S
S
Rognone
F
F
Giglio
S
S
Minelli
A
A
Danesino
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D004252:DNA Mutational Analysis; D018900:Dinucleotide Repeats; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D018895:Microsatellite Repeats; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D012303:Ring Chromosomes; D013577:Syndrome