Exceptional complex chromosomal rearrangement and microdeletions at the 4q22.3q23 and 14q31.1q31.3 regions in a patient with azoospermia
β Scribed by Sezin Yakut; Zafer Cetin; Ozden Altiok Clark; Mustafa Faruk Usta; Sibel Berker; Guven Luleci
- Book ID
- 119241420
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 301 KB
- Volume
- 512
- Category
- Article
- ISSN
- 0378-1119
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## Abstract We detected a unique de novo complex chromosome rearrangement (CCR) in a patient with multiple abnormalities including growth retardation, facial anomalies, exudative vitreoretinopathy (EVR), cleft palate, and minor digital anomalies. Cytogenetic analysis, fluorescent in situ hybridizat
A 5-year-old girl with developmental and growth retardation is reported with complex chromosome rearrangements consisting of a partial Xq deletion and an abnormal chromosome 3 with multiple breakpoints. GTG-banding, and multiplex and conventional FISH studies showed that a 6.6-Mb Xq22-q23 segment wa