Delineation of trisomy 9 syndrome.
نویسندگان
چکیده
منابع مشابه
Report of a new case and clinical delineation of mosaic trisomy 9 syndrome.
Report of a new case and clinical delineation of mosaic trisomy 9 syndrome SUMMARY A newborn girl with trisomy 9 mosaicism is reported. Clinical findings included major malformations: bilateral hip dislocation, dislocation of the left knee, extreme micro-gnathia, and microsomy. Up to date, 11 live-born infants with trisomy 9 have been reported, which allows us to make a karyotype/phenotype corr...
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We report on a girl with a partial duplication of the proximal part of the long arm of chromosome 10, confirmed by chromosome painting. The phenotypic findings are compared to those found in six other published cases with the same karyotype. Recognition of a specific partial proximal trisomy 10q syndrome seems to be possible, consisting of mild to moderate developmental delay, postnatal growth ...
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Partial duplication of the long arm of chromosome 1 has been described in more than 200 patients. In most of these cases, the duplication is the result of an unbalanced segregation of a parental balanced translocation. Patients with duplications of 1q are therefore monosomic for the other chromosomal material involved in the translocation. The phenotypic result of such chromosomal abnormalities...
متن کاملReport 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...
متن کاملTrisomy 22. Two new cases and delineation of the phenotype.
Two unrelated children, not affected with Down's syndrome, with strikingly similar phenotypes and an extra G-like chromosome are presented. Quinacrine and trypsin-Giemsa banding identified the extra chromosome as No. 22. The phenotype of these patients and the review of 15 additional similar cases from the literature permit a definition of the cardinal features of trisomy 22; mental and growth ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1983
ISSN: 1468-6244
DOI: 10.1136/jmg.20.2.156