## Abstract We report on a case of a 9βmonthβold female infant with a direct duplication of the 7p13βp22.1 chromosome region diagnosed by combining conventional cytogenetic, FISH, and multicolor banding (MCB) studies. Traditional Gβbanding detected a partial 7p duplication, which was further demons
Emerging phenotype of duplication (7p): A report of three cases and review of the literature
β 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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## Abstract A review of the 17 previously reported cases of duplication 3p and study of a new patient who has a duplication of the chromosome segment 3p21βpter show a remarkably consistent phenotype among these patients and suggest some generalizations about prognosis. The manifestations include lo
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