Partial duplication 1q: Report of four patients and review of the literature
β Scribed by Rasmussen, Sonja A. ;Frias, Jaime L. ;Lafer, Charlotte Z. ;Eunpu, Deborah L. ;Zackai, Elaine H.
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 719 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0148-7299
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We report a male infant with a 47,XY, +der(22),t( 1 ;22)(q32;qll)pat karyotype. Thus, he has duplication of chromosomes l(q32'qter) and 22(pter-\*qll). Six patients with dup l(q32'qter) and eight with dup l(q42-tqter) have been described. These two groups of patients share several manifestations,
## Abstract ## BACKGROUND Pure partial trisomy of chromosome 5q is rare and cases have ranged over the entire region, making it difficult to describe a good phenotypic correlation to the cytogenetic duplication. ## CASE We present a 4.5βyearβold girl with a de novo direct duplication of chromoso
## 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