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Partial trisomy 18q in a newborn with typical 18 trisomy phenotype

✍ Scribed by J. P. Fryns; F. Detavernier; A. Fleteren; H. Berghe

Publisher: Springer
Year: 1978
Tongue: English
Weight: 238 KB
Volume: 44
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00295415

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✦ Synopsis

This paper describes a case of partial trisomy of almost the entire long arm of chromosome 18 in a newborn with classic trisomy-18 phenotype, resulting from a de novo unbalanced 181/21p translocation: karyotype: 46,XX,-21,t(18;21)(18qter leads to 18q11 ::21p12 leads to 21qter). A review of the other reported cases of partial trisomy 18 suggests that a critical segment in chromosome 18, corresponding to bands q11-q12, might be responsible for most of the signs of trisomy 18, including failure to thrive and early death.

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