Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.
Reports on patients with pure and complete trisomy 12p are rare. Up to now, 12 cases have been described in the literature. Here, we report on the genotype/phenotype-correlation of a female patient with a pure trisomy 12p. Conventional cytogenetic studies on peripheral blood chromosomes as well as molecular cytogenetic (fluorescence in situ hybridization, FISH) techniques including whole chromosome painting (WCP), comparative genomic hybridization (CGH), multicolor-banding (MCB) detected a female karyotype with an abberant chromosome 12:46,XX,der(12).ish dup(12)(pter --> q24.3::p11.2 --> pter). In addition to the trisomy 12p specific clinical hallmarks, the patient showed some features of Pallister-Killian syndrome (PKS) such as sparse hair, macroglossia, and epilepsy. These findings contribute to the genotype/phenotype correlation in trisomy 12p patients.
Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany.
Walter
W
Zumkeller
Marianne
M
Volleth
Petra
P
Muschke
Holger
H
Tönnies
Anita
A
Heller
Thomas
T
Liehr
Peter
P
Wieacker
Markus
M
Stumm
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics*; D020223:Chromosome Painting; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000473:pathology; D004827:Epilepsy / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008260:Macroglossia / Q000473:pathology; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D014314:Trisomy / Q000235:genetics*