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Rothmund‐Thomson syndrome in siblings: evidence for acquired in vivo mosaicism
Author(s) -
Lindor Noralane M.,
Devries Ellen M. G.,
Michels Virginia V.,
Schad Christopher R.,
Jalal Syed M.,
Donovan Kathleen M.,
Smithson William A.,
Kvols Larry K.,
Thibodeau Stephen N.,
Dewald Gordon W.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb03270.x
Subject(s) - biology , genetics , aneuploidy , trisomy , chromosome , germline mosaicism , fluorescence in situ hybridization , cytogenetics , centromere , buccal swab , cataracts , pathology , somatic cell , medicine , gene
Rothmund‐Thomson syndrome (RTS) is an autosomal recessive disorder characterized by skin abnormalities that appear in infancy, skeletal abnormalities, juvenile cataracts and other manifestations of premature aging, and a predisposition to malignancy. The diagnosis is made on clinical grounds as no consistent laboratory test has been identified. Chromosome studies have been reported for only three patients with RTS and in two of these three, trisomy 8 mosaicism was found. We performed a variety of cytogenetic and molecular genetic studies on two siblings with RTS and on their phenotypically normal parents. Two chromosomally abnormal clones involving either trisomy 8 or i(8q) were found in both patients with RTS. These clones were present in vivo , as they were seen in interphase buccal smears and lymphocytes from unstimulated preparations using both conventional cytogenetic studies and fluorescence in situ hybridization (FISH) with a centromere probe for chromosome 8. These results suggest that RTS is associated with in vivo clonal chromosomal rearrangements causing an acquired somatic mosaicism.