Complex cardiac malformation in a case of trisomy 9.
نویسندگان
چکیده
A case of trisomy 9 showing a complex cardiac malformation is presented with a review of other published cases. A distinct trisomy 9 syndrome can be recognised with intrauterine growth retardation, short survival, consistent facial dysmorphism, congenital heart disease, and abnormalities of the skeletal, genital, and renal systems. There is no evidence for a maternal age effect.
منابع مشابه
Report of a Case with Trisomy 9 Mosaicism
Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 22 3 شماره
صفحات -
تاریخ انتشار 1985