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Emerging phenotype of duplication (7p): A report of three cases and review of the literature

✍ Scribed by Milunsky, Jeffrey M. ;Wyandt, Herman E. ;Milunsky, Aubrey


Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
332 KB
Volume
33
Category
Article
ISSN
0148-7299

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A male infant with multiple congenital anomalies was found to have a deletion of 7q [46,XY,del(7)(pter+ql1.2:: q22-3qter)l. The father had a balanced rearrangement involving chromosomes 7 and 9, interpreted as 46,XY,dir ins(9;7) (9pter+ 9p12::7q22+ 7q11.2:: 9p12-3 9qteq7pter-3 7q11.2 :: 7q22-3 7qter