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Molecular characterization of a complex translocation in a newborn infant

โœ Scribed by Verma, R. S. ;Conte, R. A. ;Macera, M. J. ;Khan, A. S. S. I. ;Hebi, S. ;Masoud, A. A. ;Zaman, A. Al ;Bader, M. Al

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
481 KB
Volume
46
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

A newborn infant was referred because of low-set ears, mild downward slant of the palpebral fissues, micrognathia with higharched palate, a flat midface, small mouth, and thin upper lip with cupid bow configuration. To some extent her cry resembled that associated with cri du chat syndrome.

Cytogenetic findings with Gand Q-banding alone failed to characterize precisely the complex translocations. By the chromosome in situ suppression (CISS) hybridization technique using whole chromosome specific probes, a complex 4 breakpoint rearrangement involving both arms of a single chromosome 1 with the long arms of chromosomes 5 and 11 was disclosed, i.e., 46,XX, der(l),t(l;5) t(1;ll) (5qter+ 5q31::lp31.3+ lq44::llq23+ 11 qter;5pter+5q31::

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