In:
Journal of Histochemistry & Cytochemistry, SAGE Publications, Vol. 53, No. 3 ( 2005-03), p. 365-366
Abstract:
We report on the case of a pregnant woman with hyposomia who was previously suspected of having Turner syndrome. Prenatal cytogenetic diagnostics showed a fetal karyotype of 46,XX,dup(13)(q14.2q21.1) ish.13q14(RB1 × 3). Parental and grandparental chromosome analyses were performed and the dup(13) was found to be of maternal origin (de novo). The pregnancy was continued and a healthy female child was born with normal development apart from growth retardation. The reported chromosomal aberration is, together with two other cases reported in the literature, the first hint of a short stature–like phenotype due to dup(13)(q14.2q14.3).
Type of Medium:
Online Resource
ISSN:
0022-1554
,
1551-5044
DOI:
10.1369/jhc.4B6388.2005
Language:
English
Publisher:
SAGE Publications
Publication Date:
2005
detail.hit.zdb_id:
1421306-0
SSG:
12
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