Duplication 6q syndrome
β Scribed by Tipton, Robert E. ;Berns, Jeffrey S. ;Johnson, Walter E. ;Wilroy, Robert S. ;Summitt, Robert L. ;Lubs, Herbert A.
- Publisher
- John Wiley and Sons
- Year
- 1979
- Tongue
- English
- Weight
- 337 KB
- Volume
- 3
- Category
- Article
- ISSN
- 0148-7299
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The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23-24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23-qter) was detected. We present the case of a
We report on a female infant with partial 6q trisomy (46,XX,dir dup(6)(q23.3q25.3)) and phenotypic characteristics of the "duplication 6q syndrome," including intrauterine growth retardation, dolichocephaly, depressed nasal bridge, almond-shaped palpebral fissures, short neck, flexion-contractures o
## Abstract Partial duplication of chromosome 3q is a wellβdescribed condition of multiple congenital anomalies and developmental delay that resembles the Brachmannβde Lange syndrome. Similarly, an emerging phenotype of a distal 5q deletion syndrome has recently been described. The combination of b