A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature

• Published in: European journal of pediatrics Vol. 162; no. 9; pp. 582 - 588
• Main Authors: SEIDEL, Jörg, HELLER, Anita, ZINTL, Felix, CLAUSSEN, Uwe, LIEHR, Thomas, SENGER, Gabriele, STARKE, Heike, CHUDOBA, Ilse, KELBOVA, Christina, TÖNNIES, Holger, NEITZEL, Heidemarie, HAASE, Claudia, BEENSEN, Volkmar
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.09.2003; Berlin Springer Nature B.V
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Adolescent; Biological and medical sciences; Chromosome aberrations; Chromosomes, Human, Pair 11 - genetics; Chromosomes, Human, Pair 2 - genetics; Chromosomes, Human, Pair 4 - genetics; Cytogenetic Analysis; Facial Bones - abnormalities; Female; Fingers - abnormalities; Humans; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Medical genetics; Medical sciences; Mental Disorders - congenital; Mental Disorders - diagnosis; Mental Disorders - genetics; Polydactyly - diagnosis; Polydactyly - genetics; Translocation, Genetic - genetics; Chromosomal aberration; Molecular hybridization; In situ; Psychomotor retardation; Diseases of the osteoarticular system; Dysmorphic facies; Microcephaly; Multicolour fluorescence in-situ hybridisation; Behavioral disorder; Polydactyly; Genetics; Child; Complex chromosomal rearrangements; Human; Multicolour banding; Nervous system diseases; Fluorescence in-situ hybridisation; Dysostosis; Molecular cytogenetics; Congenital disease; Cerebral disorder; Case study; Concomitant disease; Malformation; Central nervous system disease; Cytogenetics; Molecular biology; Bibliographic review
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/s00431-003-1254-3

We report a 13-year-old female patient with multiple congenital abnormalities (microcephaly, facial dysmorphism, anteverted dysplastic ears and postaxial hexadactyly), mental retardation, and adipose-gigantism. Ultrasonography revealed no signs of a heart defect or renal abnormalities. She showed no speech development and suffered from a behavioural disorder. CNS abnormalities were excluded by cerebral MRI. Initial cytogenetic studies by Giemsa banding revealed an aberrant karyotype involving three chromosomes, t(2;4;11). By high resolution banding and multicolour fluoresence in-situ hybridisation (M-FISH, MCB), chromosome 1 was also found to be involved in the complex chromosomal aberrations, confirming the karyotype 46,XX,t(2;11;4).ish t(1;4;2;11)(q43;q21.1;p12-p13.1;p14.1). To the best of our knowledge no patient has been previously described with such a complex translocation involving 4 chromosomes. This case demonstrates that conventional chromosome banding techniques such as Giemsa banding are not always sufficient to characterise complex chromosomal abnormalities. Only by the additional utilisation of molecular cytogenetic techniques could the complexity of the present chromosomal rearrangements and the origin of the involved chromosomal material be detected. Further molecular genetic studies will be performed to clarify the chromosomal breakpoints potentially responsible for the observed clinical symptoms. This report demonstrates that multicolour-fluorescence in-situ hybridisation studies should be performed in patients with congenital abnormalities and suspected aberrant karyotypes in addition to conventional Giemsa banding.