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 m...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2004-09, Vol.129A (3), p.261-264
Main Authors: Zumkeller, Walter, Volleth, Marianne, Muschke, Petra, Tönnies, Holger, Heller, Anita, Liehr, Thomas, Wieacker, Peter, Stumm, Markus
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
CGH
Child
Chromosome Banding
Chromosome Disorders - genetics
Chromosome Painting
Chromosomes, Human, Pair 12 - genetics
Craniofacial Abnormalities - pathology
Epilepsy - genetics
Female
FISH
Genotype
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability - genetics
Karyotyping
Macroglossia - pathology
multicolor-banding
Nucleic Acid Hybridization
Pallister-Killian syndrome
Phenotype
Trisomy - genetics
trisomy 12p
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Summary: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. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30125