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FULL MONOSOMY 21, PRENATALLY DIAGNOSED BY FLUORESCENT IN SITU HYBRIDIZATION

✍ Scribed by ANNE M. S. JOOSTEN; SANDRA DE VOS; DIANE VAN OPSTAL; HELEN BRANDENBURG; JOHANNES L. J. GAILLARD; CHRISTL VERMEIJ-KEERS

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
442 KB
Volume
17
Category
Article
ISSN
0197-3851

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✦ Synopsis

We describe a case of full monosomy 21 which was prenatally diagnosed in chorionic villi by fluorescent in situ hybridization (FISH). Because of intrauterine fetal death, a curettage was performed and cytogenetic analysis of skin fibroblasts confirmed the presence of monosomy 21 in fetal cells. DNA investigations showed a paternal origin of the single chromosome 21. Inspection and autopsy of the fetus revealed several congenital malformations. Some of them have been reported in earlier studies of monosomy 21; others concern new observations. Regarding the eye, the following abnormalities were microscopically observed: absence of the anterior and posterior eye chambers, aniridy, a hypoplastic ciliary body, Peter's anomaly, and a double retina with secondary dysplasia. In addition, malformations of the extremities were seen: partial, proximal syndactyly of digits 3 and 4 of the right hand; pes varus position of the right foot; and transverse reduction defect at the tarsals of the left foot. To our knowledge, this is the first case in which full monosomy 21 has been proven.

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