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Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome

✍ Scribed by Anne Moncla; Luciana Piras; Oswaldo Fernando Arbex; Françoise Muscatelli; Marie-Geneviève Mattei; Jean-François Mattei; Michel Fontes

Book ID
104661729
Publisher
Springer
Year
1993
Tongue
English
Weight
535 KB
Volume
90
Category
Article
ISSN
0340-6717

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✦ Synopsis

We used probes from the juxtacentromeric region of the chromosome 17 short arm to map three microdeletions in patients with Smith-Magenis syndrome. The common clinical findings were: speech delay with behavioural problems associated with broad flat midface, brachycephaly, broad nasal bridge and brachydactyly. We demonstrated, using Southern blot analysis (loss of heterozygosity and gene dosage), that all patients were deleted for two pl 1.2 markers: pYNM 67-R5 (D17S29) and pal0-41 (D17S71). We determined that one breakpoint was located between D17S58 and D17S29 and the other breakpoint distal to D17S71. The possibility that an unstable region, located between the Smith-Magenis syndrome locus and CMT1A a closely located locus, could be involved in the rearrangements associated with these two inherited diseases is discussed.

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