Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver–Russell syndrome

• Published in: American journal of medical genetics. Part A Vol. 143A; no. 13; pp. 1489 - 1493
• Main Authors: Leach, Natalia T., Chudoba, Ilse, Stewart, Tasheena V., Holmes, Lewis B., Weremowicz, Stanislawa
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.07.2007; Wiley-Liss
• Subjects: Adult; Biological and medical sciences; Chromosomal Instability; chromosome 7; Chromosome Banding; Chromosomes, Human, Pair 7 - genetics; Cognition Disorders - diagnosis; Cognition Disorders - genetics; duplication; Dwarfism - genetics; Female; fluorescence in situ hybridization (FISH); Humans; In Situ Hybridization, Fluorescence; Male; Medical genetics; Medical sciences; multicolor banding (mBAND); Silver–Russell syndrome (SRS); Syndrome; Chromosomal aberration; Cognitive disorder; Silver-Russell syndrome (SRS); fluorescence in situ hybridization (FISH); Chromosome C7; multicolor banding (mBAND); Genetic disease; duplication; Association; chromosome 7; Fluorescence in situ hybridization; Silver-Russell syndrome; Abnormal chromosome; Chromosome duplication

We report on a familial duplication in the short arm of chromosome 7, dup(7)(p11.2p12), present in three generations. The duplication was identified by GTG‐banding and fluorescence in situ hybridization (FISH) with a whole chromosome 7 DNA painting probe that verified that the duplicated material or...