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Раздел 6. Наследственные заболевания и врожденные пороки развития
INTERPHASE MOLECULAR CYTOGENETIC DETECTION RATES OF CHRONIC LYMPHOCYTIC LEUKEMIA-SPECIFIC ABERRATIONS ARE HIGHER IN CULTIVATED CELLS THAN IN BLOOD OR BONE MARROW SMEARS Alhourani E., Glaser A., Schlie C., Pohle B, Liehr T. Jena University Hospital, Institute of Human Genetics, Jena, Germany
Banding cytogenetics is still the gold standard in many fields of leukemia diagnostics. However, in chronic lymphocytic leukemia (CLL), GTG-banding results are hampered by a low mitotic rate of the corresponding malignant lymphatic cells. Thus, interphase fluorescence in situ hybridization (iFISH) for the detection of specific cytogenetic aberrations is done nowadays as a supplement to or even instead of banding cytogenetics in many diagnostic laboratories. These iFISH studies can be performed on native blood or bone marrow smears or in nuclei after cultivation and stimulation by a suitable mitogen. As there are only few comparative studies with partially conflicting results for the detection rates of aberrations in cultivated and native cells, this question was studied in 38 CLL cases with known aberrations in 11q22.2, 11q22.3, 12, 13q14.3, 14q32.33, 17p13.1, or 18q21.32. The obtained results implicate that iFISH directly applied on smears is in general less efficient fo r the detection of CLL-specific genetic abnormalities than for cultivated cells. This also shows thatapplied cell culture conditions are well suited for malignant CLL cells. Thus, to detect malignant aberrant cells in CLL, cell cultivation and cytogenetic workup should be performed and the obtained material should be subjected to banding cytogenetics and iFISH.
INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY IN A MOROCCAN PATIENT WITH DE NOVO INVERTED DUPLICATION 9p24p12 AND DEVELOPMENTAL DELAY: A CASE REPORT
AmasdlS.1-2, Natiq A.23, Elalaoui S.C.2, Sbiti A.2, Liehr T.4, Sefiani A.1'2
'Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco;
2Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco;
3Faculté des Sciences, Université Mohammed V, Agdal, Rabat, Morocco;
"Institute of Human Genetics, University Hospital Jena, Jena, Germany
9p duplication is a structural chromosome abnormality, described in more than 150 patients to date. In most cases the duplicated segment was derived from a parent being a reciprocal translocation carrier. However, about 15 cases with de novo 9p duplication have been reported previously. Clinically, this condition is characterized by mental retardation, short stature, developmental delay, facial dysmorphism, hand and toe anomalies, heart defects
and/or ocular manifestations. We report here the case of a 2-year-old Moroccan girl with a de novo duplication of 9p24 to p12. Clinical manifestations included failure to thrive, psychomotor delay, microcephaly, dysmorphic features, equinus feet, and umbilical hernia. Further clinical investigations showed an insulin-like growth factor type 1 deficiency. Banding cytogenetics identified a derivative chromosome 9, with an abnormally elongated short arm. Molecular cytogenetics based on multicolor banding probes characterized an inverted duplication 9p24 to p12 involving several genes especially an insulin-like growth factor binding protein named insulin-like growth factor binding protein-like 1, which seemed to be overexpressed, leading to the insulin-like growth factor deficiency in our patient. This study showed that insulin-like growth factor type 1 deficiency can be another feature of 9p duplication, suggesting a likely involvement of insulin-like growth factor binding protein-like 1 overexpression in growth delay. However, further studies of the gene expressions are needed to better understand the phenotype-karyotype correlations.
20p12.3 DELETION IS RARE CAUSE OF SYNDROM-IC CLEFT PALATE: CASE REPORT AND REVIEW OF LITERATURE
Amasdl S.1~2, Natiq A.2~3, Sbiti A.2, Zerkaoui M.1~2, Lyahyai J.1, Amzazi S.3, Liehr T.4, Sefiani A.1,2 •Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco;
2Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco;
3Faculté des Sciences, Université Mohammed V, Rabat, Morocco;
"Institut de Génétique Humaine, Hôspital Universitaire de Jena, Jena, Germany
Orofacial cleft (OFC) is one of the most common congenital malformations with a global incidence of approximately 1/700 live births. Clinically, OFCs can be syndromic or non-syndromic. A 5 years old boy admitted for genetic evaluation because of psychomotor delay, failure to thrive, dysmorphic features and cleft palate. Conventional cytogenetic showed a notably short p arm of one chromosome 20. FISH analysis identified the derivative chromosome 20 as a de novo 20p12.3 deletion. We present in this paper a Moroccan patient with syn-dromic cleft palate caused by a de novo 20p12.3 deletion, and we highlight the interest of FISH in the diagnosis confirmation of chromosomal rearrangement. In practice, 20p12.3 deletion should be considered as an etiological diagnosis in the case of syndromic cleft palate.
MOLECULAR CYTOGENETIC STUDIES IDENTIFY NOVEL CHROMOSOMAL ABERRATIONS IN MY-ELOID MALIGNANCES OF FANCONI ANEMIA
Borges M.L.R.12, Soares-Ventura E.M.1, de Araûjo Silva Amaral B.1, Cornélio M. T.M.N.1~2, Araûjo S.M.1, Liehr T.3,
РОССИЙСКИЙ ВЕСТНИК ПЕРИНАТОЛОГИИ И ПЕДИАТРИИ, 4, 2016 ROSSIYSKIY VESTNIK PERINATOLOGY IPEDIATRII, 4, 2016
