Unbalanced translocation 46,xy,−15,+der(22)t(15;22)(q13;q11)pat: Case report and review of the literature

✍ Scribed by Van Hove, Johan L. K. ;McConkie-Rosell, Allyn ;Chen, Yuan-Tsong ;Iafolla, A. Kimberly ;Lanman, Joseph T. ;Hennessy, Mark D. ;Kahler, Stephen G.

• Book ID: 102702062
• Publisher: John Wiley and Sons
• Year: 1992
• Tongue: English
• Weight: 651 KB
• Volume: 44
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320440107

✦ Synopsis

We presenta boy with a rare unbalanced translocation 46,XY, -15, + der(22),t(l5;22)(ql3;qll) pat. Previous reports of similar chromosome findings mention only the Prader-Willi phenotype. At birth, his manifestations included severe hypotonia and lethargy, (typical of deletion of 15ptewq13); hypertelorism, downslanting small palpebral fissures, preauricular tags, long philtrum (typical of duplication of 2 2 p t e w q l l ) ; severe laryngotracheomalacia, and proximal implantation of the thumb. In a review of the literature on chromosome abnormalities involving duplication of 22qll the associated clinical phenotype consists of mild mental retardation, microcephaly, hypotonia, hypertelorism, downslanting palpebral fissures, a long philtrum, cleft or highly arched palate, and ear abnormalities. Preauricular pits or tags are common. Cardiovascular defects, renal and genital problems and dislocated hips are frequently present. Anal atresia and colobomata are mainly seen in cat-eye syndrome, the phenotype associated with idic 22qll. Our findings indicate that patients with unbalanced t(15;22) can have manifestations of the dup 22ql1, in addition to the previously reported Prader-Willi phenotype, even if the duplicated segment is small. o 1992 wiiey-Liss, Inc.