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

Abstract

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.

A new case of Grange syndrome without cardiac findings

“…The differential diagnosis of Grange syndrome would include chromosome anomalies due to its multi-system involvement [Seidel et al, 2003], VATER association with renal and extremity anomalies [Weaver et al, 1986], and Saethre-Chotzen syndrome with mild acrocephaly, asymmetry of the skull, and partial soft tissue syndactyly of fingers 2 and 3 and toes 3 and 4 [Legius et al, 1989]. However, none of these entities encompass all of the typical Grange syndrome findings of arterial occlusive disease with hypertension, heart defects, bone fragility, and brachysyndactyly, making this syndrome a more compelling diagnosis for this patient.…”

Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI‐derived fetus with multiple abnormalities

“…Previous publications describing the use of MCB include: diagnosis of a balanced CCR found in a healthy female as part of infertility investigations [Kuechler et al, 2005], prenatal diagnosis of a balanced CCR in an ICSI pregnancy [Trimborn et al, 2005], characterization of a 15‐breakpoint CCR in a mentally retarded child [Houge et al, 2003] and a multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation, and behavior disorder [Seidel et al, 2003], confirmation of a complex karyotype in a child with multiple congenital abnormalities [Kline et al, 2004], and the identification of recurrent chromosomal alterations in breast tumor cell lines [Letessier et al, 2005]. In the case described here, the structure of the derivative chromosome 12, together with the nature and extent of the monosomy, could not have been ascertained without the use of MCB; we are only aware of one other publication [Weise et al, 2002], describing such delineation of chromosomal monosomy in a constitutional karyotype.…”

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

“…Peripheral blood lymphocytes were used for establishing lymphoblastoid cell lines by EBV transformation. Molecular cytogenetics investigations were performed before for CP2 36 and CT3 21 . For CT3, previous serial FISH mapping found one of the breakpoints to disrupt GRIN2B 21 .…”