CLINICAL AND CYTOGENETIC STUDY OF A NON MOSAIC 46, X, ISODICENTRIC Yq IN AN EGYPTIAN PATIENT WITH TURNER SYNDROME

• Published in: Genetic counseling Vol. 24; no. 1; pp. 37 - 44
• Main Authors: EL-BASSYOUNI, By H. T, EL-GERZAWY, A, EID, O, EL-RUBY, M. O
• Format: Journal Article
• Language: English
• Published: Genève Médecine & hygiène 2013; Éditions Médecine et Hygiène
• Subjects: Biological and medical sciences; Child, Preschool; Chromosomes, Human, X - genetics; Chromosomes, Human, Y - genetics; Cytogenetic Analysis - methods; Egypt; Female; General aspects. Genetic counseling; Genetic Markers - genetics; Gynecology. Andrology. Obstetrics; Humans; In Situ Hybridization, Fluorescence - methods; Karyotyping - methods; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance; Medical genetics; Medical sciences; Turner Syndrome - genetics; Africa; Egypt; Chromosomal aberration; Human; Dysgenesia; Sex; Patient; Sexual differentiation disorder; Turner syndrome; Female genital diseases; Genital diseases; Intersex; Symptomatology; Disorder of sex development; Genetic counseling; Malformation; Gonad; Fluorescence in situ hybridization; Cytogenetics; Development; Mosaicism; Molecular biology; Ambiguous genitalia
• ISSN: 1015-8146

We report on a female with Turner syndrome phenotype and an isodicentric Y chromosome 46, X, idicYq a combination which has to the best of our knowledge not been reported before. To delineate the phenotypic spectrum (clinical and gonadal features) for a female patient with 46, X, + marker karyotype. The study included a female patient referred to the Clinical Genetics Department, National Research Centre, Egypt. Our patient was subjected to clinical examination and chromosome analysis by GTG banding techniques. Fluorescence in situ hybridization (FISH) was done to identify the marker chromosomes detected by conventional methods. The patient presented with bilateral lymphedema of upper and lower limbs since birth. Craniofacial anomalies (epicanthal folds, broad nasal bridge, long philtrum, protruded tongue, low set ears, short neck), genital ambiguity, with variable Turner stigmata and normal height were detected. Chromosome analysis revealed non mosaic 46, X, + marker. FISH showed 46, X, isodicentric Yq, SRY was negative and deletion ofYp subtelomere. To our knowledge, such an association has not been previously described. Further elucidation to pinpoint the level of the defect of major Y genes is of great clinical significance for better phenotype/karyotype correlations.