The clinical spectrum associated with a chromosome 17 short arm proximal duplica

[Guest guest]

Am J Med Genet A. 2008 Mar 7

The clinical spectrum associated with a chromosome 17 short arm

proximal duplication (dup 17p11.2) in three patients.

Doco-Fenzy M, Holder-Espinasse M, Bieth E, Magdelaine C, MC,

Khoury M, Andrieux J, Zhang F, Lupski JR, Klink R, Schneider A, Goze-

eau O, Cuisset JM, Vallee L, Manouvrier-Hanu S, Gaillard D, de

ville B.

Service de Génétique, Hôpital Maison & #8208;Blanche, CHRU, UFR de Médecine,

Reims, France.

The p11.2-p12 region of human chromosome 17 is gene rich and composed

of at least two genomically unstable domains: the -Magenis

syndrome region (17p11.2) and the Charcot-Marie-Tooth region (17p12),

both of which are flanked by several low-copy repeat sequences.

Homologous recombination between these flanking repeats results in

either deletion- or duplication-associated phenotypes caused by a

gene dosage effect. We report on the clinical phenotype of three

patients presenting with either a 17p11.2 or 17p11.2p12 duplication,

revealed by chromosome analysis and confirmed by fluorescent in situ

hybridization analysis, high resolution genomic analysis of the 17p

region using oligonucleotide array comparative genomic hybridization,

and molecular studies with microsatellite markers. Two patients carry

the 17p11.2 duplication, while the third one shows a larger

duplication including the 17p12 region.

The facial features observed in our patients include triangular face,

full cheeks, smooth philtrum, thin upper lip, dental malocclusion,

irregular eyebrows, and sparse hair, all of which are consistent with

the pure proximal dup 17p phenotype. The patients' other clinical

features are compared with previously published cases.