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.
Zumkeller
Walter
W
Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany.
Volleth
Marianne
M
Muschke
Petra
P
Tönnies
Holger
H
Heller
Anita
A
Liehr
Thomas
T
Wieacker
Peter
P
Stumm
Markus
M
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*