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A history of miscarriages and mild prognathism as possible mode of presentation of mosaic trisomy 18 in women
Author(s) -
Satge D.,
Geneix A.,
Goburdhun J.,
LasneDesmet P.,
Rosenthal C.,
Arnaud R.,
Malet P.
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.tb02714.x
Subject(s) - trisomy , karyotype , medicine , presentation (obstetrics) , obstetrics , prognathism , gynecology , pediatrics , genetics , chromosome , biology , surgery , osteotomy , gene
A 22‐year‐old woman seeking medical assistance for hypofertility after two miscarriages had very slight anomalies: mild macrogenia and prognathism, and temporal depilation. Peripheral lymphocytes and fibroblastic karyotypes disclosed the tenth published case of low‐level mosaicism for trisomy 18 with normal intelligence. Subfertility is frequently observed among these patients. As women with this anomaly are at risk of trisomy 18 pregnancies and as five cases have been reported recently, this particular chromosomal anomaly may not be so exceptional and should be investigated in cases of hypofertility.