X-inactivation pattern in three cases of X/autosome translocation

✍ Scribed by Zabel, Bernhard U. ;Baumann, Walter A. ;Pirntke, Wilfried ;Gerhard-Ratschow, Kathrein ;Francke, Uta

• Publisher: John Wiley and Sons
• Year: 1978
• Tongue: English
• Weight: 502 KB
• Volume: 1
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320010307

✦ Synopsis

Abstract

We describe an X/15 translocation which was balanced in a phenotypically normal mother [46,X,t(X;15) (p22;q15)] and unbalanced in her phenotypically abnormal daughter [46,X,der(X),t(X;15) (p22;q15)mat]. A third case involves a balanced X/21 translocation in a girl with a multiple congenital anomaly‐retardation syndrome [46,X,t(X;21) (p11;p11?)]. 5‐Brd U acridine orange banding on lymphocytes revealed late replication of the normal × chromosome in the mother and of the normal or abnormal × chromosome in the two other cases. Our findings are only partially consistent with previous observations. All X‐inactivation patterns can be explained by random inactivation and subsequent selection against specific cell lines. Furthermore, the findings in our patient with X/21 translocation support the hypothesis of the existence of one inactivation center on Xq.