Deletions with inversions: Report of a mutation and review of the literature
β Scribed by Rhett P. Ketterling; Darrell O. Ricke; Mark W. Wurster; Steve S. Sommer
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 388 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1059-7794
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We report on a 13-year-old boy who had an interstitial deletion of the long arm of chromosome 6[46,XY,del(6)(pter+q13::q15+qter)]. A characteristic facial appearance with facial asymmetry, vertebral anomalies, vdgus heels with flat feet, and congenital heart defect seem to form part of a specific de
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
## Abstract Deletions of chromosome bands 13q33β34 are rare. Patients with such deletions have mental retardation, microcephaly, and distinct facial features. Male patients frequently also have genital malformations. We report on four patients with three overlapping deletions of 13q33β34 that have