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  • Author: A Arghir x
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Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

Karyotype investigations using classical cytogenetics, fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) techniques were used for the characterization of Y chromosome structural anomalies found in two patients with ambiguous genitalia and features of Turner syndrome. Both exhibited mosaic karyotypes of peripheral blood lymphocytes. The karyotype was 45, X[90]/ 46, X, idic(Y)(p11.3).ish idic(Y) (wcpY+, DXYS130++,SRY++,DYZ3++,DYZ1++, DYS224++)[10] in one case, and the karyotype was 45, X[65]/46, X, idic(Y) (q11).ish idic(Y)(SRY++, RP11-140H23-)[35] in the other case. Derivative Y chromosomes were different in shape and size and positive for the SRY gene, a common underlying element of ambiguous genitalia phenotypes. These results add new information concerning the role of Y chromosome structural abnormalities in sex determination pathway perturbation which are poorly understood, and highlight the importance of the sex chromosomes integrity for a normal sex phenotype development.

Abstract

De novo acute myeloid leukemias (AML) represent a heterogeneous group of clonal hematopoietic disorders in which chromosomal abnormalities are detected in a majority of patients. At present, cytogenetic changes are recognized as important diagnostic markers and prognosis determinants. Complex karyotype changes are associated with resistance to treatment and unfavorable evolution. We report on an AML case with complex karyotype changes characterized by molecular genetic techniques (fluorescence in situ hybridization - FISH and array-based comparative genomic hybridization - array-CGH) and an extremely poor outcome. A 72 year-old female patient was admitted for genetic investigations with a clinical diagnosis of AML. Classical and molecular cytogenetic tests as well as array-CGH were performed. Complex chromosomal abnormalities were identified at diagnosis, consisting of genomic imbalances involving chromosomes 6, 7, 9, and 17. AML with complex karyotype changes is a heterogeneous disease, as a variety of genomic abnormalities are detected, involving virtually all chromosomes. The pathogenesis of AML with complex karyotype is poorly understood. The complexity of karyotypic changes in our case highlights the importance of using complementary genetic investigation in order to obtain a comprehensive view of AML genome.

Abstract

Floating-Harbor syndrome (FHS) is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded speech development, intellectual disability and dysmorphic facial features. Recently, dominant mutations almost exclusively clustered in the final exon of the Snf2-related CREBBP activator protein (SRCAP) gene were identified to cause FHS. Here, we report a boy with short stature, speech delay, mild intellectual disability, dysmorphic features, and with genetically confirmed FHS. To the best of our knowledge, this is the first molecularly confirmed case with this syndrome reported in Romania. An intensive program of cognitive and speech stimulation, as well as yearly neurological, psychological, ophthalmological, otorhinolaryngological, pediatric and endocrinological monitoring for our patient were designed. We propose a checklist of clinical features suggestive of FHS, based on the main clinical features, in order to facilitate the diagnosis and clinical management of this rare condition.