Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome.
Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, seizures, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only. Here, we report on an unusual case of i(12p) in a 15-year-old boy presenting with mild mental retardation, minor facial features (long face, prognathism, short neck), normal weight, length, and OFC parameters as well as hyperpigmented streaks. The boy attended normal school until the age of 14 years. Because of hyperpigmented stripes, chromosome analysis was performed on skin fibroblasts. This study showed that 37% of the cells had an additional isochromosome for the short arm of chromosome 12. This observation illustrates the phenotypic variability of i(12p) and emphasizes the importance of skin fibroblasts chromosome analysis in patients with pigmentary skin changes.
Genevieve
D
D
Department of Genetics, Hopital Necker Enfants Malades, Paris, France.
Cormier-Daire
V
V
Sanlaville
D
D
Faivre
L
L
Gosset
P
P
Allart
L
L
Picq
M
M
Munnich
A
A
Romana
S
S
de Blois
Mc
M
Vekemans
M
M
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000473:pathology*; D018404:Isochromosomes / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D010859:Pigmentation Disorders / Q000473:pathology; D013577:Syndrome