Clinical and cytogenetic features of a case with trisomy 22.
نویسندگان
چکیده
منابع مشابه
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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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15 صفحه اولTrisomy 22 and intersex.
Complete trisomy 22, with or without mosaicism, has been reported as a distinct syndrome. In this report an infant is described who was externally male but with female rudimentary internal organs and whose karyotype was 47,XX+22.
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Partial trisomy 9q represents a rare and heterogeneous group of chromosomal aberrations characterised by various clinical features including pyloric stenosis. Here, we describe the case of a 1 year old female patient with different dysmorphic features including pyloric stenosis and prenatally detected partial trisomy 9q. This partial trisomy 9q has been analysed in detail to determine the size ...
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ژورنال
عنوان ژورنال: Proceedings of the Japan Academy, Series B
سال: 1978
ISSN: 0386-2208,1349-2896
DOI: 10.2183/pjab.54.163