✦ LIBER ✦

18q- syndrome in mother and daughter

✍ Scribed by J. P. Fryns; N. Logghe; M. Eygen; H. Berghe

Book ID: 104780046
Publisher: Springer
Year: 1979
Tongue: English
Weight: 262 KB
Volume: 130
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf00455265

No coin nor oath required. For personal study only.

✦ Synopsis

The 1 8 q -s y n d r o m e is described in a m o t h e r and her daughter. In both of them an identical, a p p a r e n t l y balanced 1 8 q -/ 1 4 p + translocation was found (Karyotype: 46,XX,t(14;18)(pll;q21)), suggesting that c h r o m o s o m a l material was lost in the process of translocation. The segment deleted and responsible for the 1 8 q -p h e n o t y p e must be located in or near b a n d 18q21, in which the break is assumed to have occurred.

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