Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia |
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Authors: | Ben-Abdallah-Bouhjar Inesse Hannachi Hanene Labalme Audrey Gmidène Abir Mougou Soumaya Soyah Najla Gribaa Moez Sanlaville Damien Elghezal Hatem Saad Ali |
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Institution: | Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Avenue Ibn Eljazzar, 4000 Sousse, Tunisia. inessebenabdallah@yahoo.fr |
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Abstract: | Duplications of the long arm of the X chromosome are rare. The infantile phenotype shares some resemblance with the Prader-Willi syndrome, presenting severe psychomotor retardation, facial dysmorphic features with a broad face, a small mouth and a thin pointed nose, hypotonia, urogenital malformation and proneness to infections. We report a boy with an additional Xq27-qter chromosome segment translocated onto the short arm of chromosome 3. The karyotype was 46,XY,der(3)t(X;3)(q27.3; p26.3)mat. This cryptic unbalanced X-autosome translocation resulted in Xq27-qter functional disomy and a deletion 3p26.3. A detailed analysis of the constitutional chromosomal changes in the patient was performed using array-CGH, FISH and PCR. The aim was to characterize the size and the location of the duplication Xq27-qter (8.18 Mb) and of the deletion 3p26.3 (1.05 Mb), to establish phenotype-genotype correlations and to offer genetic counselling. |
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