Short report
Loss of the SHOX gene associated with
Leri-Weill dyschondrosteosis in a 45,X male
L Stuppiaa b, G Calabresea, P Borrellic, V Gattaa, E Morizioa, R Mingarellid, M C Di Gilioe, A Crinòc, A Giannottie, G A Rappoldf, G Palkaa
a Dipartimento di
Scienze Biomediche, Sezione di Genetica Medica, Università di Chieti,
Italy, b Istituto di
Citomorfologia Umana Normale e Patologica del CNR, Chieti, Italy, c Divisioni di Endocrinologia,
Ospedale Bambin Gesù, Roma, Italy, d Istituto
CSS Mendel, Roma, Italy, e Divisioni di Genetica, Ospedale Bambin Gesù,
Roma, Italy, f Institute of Human Genetics, University of
Heidelberg, Im Neuenheimer 328, Heidelberg, Germany
Correspondence to: Dr Palka, Via B Buozzi 93, 65100 Pescara, Italy.
Revised version received 15 March 1999;
Accepted for publication 13 May
1999
A male patient is reported with a 45,X karyotype and Leri-Weill
dyschondrosteosis (LWD). FISH analysis with
SHOX and SRY gene probes was carried out. One copy of both
SHOX and SRY was
detected in interphase nuclei, clarifying the origin of LWD and the
male phenotype. Molecular results suggested that the 45,X karyotype arose through two independent events. The first occurred at paternal meiosis leading to an unequal crossing over between the short arms of
the X and Y chromosomes. As a consequence, the
SRY gene was translocated onto Xp, thereby
explaining the male phenotype of the patient. The second event probably
occurred at maternal meiosis or at the early stages of the zygote
resulting in the loss of the maternal X chromosome.
Keywords: 45,X karyotype; Leri-Weill syndrome; SHOX gene
© 1999 by J Med Genet
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