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Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri–Weill dyschondrosteosis
Author(s) -
Palka G,
Stuppia L,
Guanciali Franchi P,
Chiarelli F,
Fischetto R,
Borrelli P,
Giannotti A,
Fioretti G,
Rinaldi Mm,
Mingarelli R,
Rappold Ga,
Calabrese G
Publication year - 2000
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 - 10.1034/j.1399-0004.2000.570609.x
Subject(s) - haploinsufficiency , pseudoautosomal region , short stature , idiopathic short stature , turner syndrome , genetics , biology , medicine , x chromosome , endocrinology , phenotype , gene , growth hormone , hormone
Twelve patients with different features of Turner syndrome, and with Xp and Yp rearrangements involving the pseudoautosomal region (PAR1) are described. In all patients, FISH analysis showed loss of one copy of the Short Stature Homeobox (SHOX)‐containing gene. Ten patients had short stature and one disproportionate (mesomelic) normal stature, while the last one had normal stature. Skeletal abnormalities, including shortened ulna, were detected in nine subjects, and in six of them Madelung deformity was observed. These clinical data indicated a genotype–phenotype correlation between haploinsufficiency of SHOX, and short stature and skeletal abnormalities.