Proximal 10q trisomy: a new case with anal atresia
نویسندگان
چکیده
منابع مشابه
Proximal 10q trisomy: a new case with anal atresia.
EDITOR—Duplication of proximal segments of the long arm of chromosome 10 is rare and results in a pattern of malformations and dysmorphic features that are distinct from those of the more common distal 10q trisomy syndrome. To our knowledge, only nine patients with proximal 10q trisomy have been documented. Well defined clinical features of proximal 10q trisomy syndrome are growth and developme...
متن کاملProximal 10q trisomy: a new case with anal atresia
EDITOR—Duplication of proximal segments of the long arm of chromosome 10 is rare and results in a pattern of malformations and dysmorphic features that are distinct from those of the more common distal 10q trisomy syndrome. To our knowledge, only nine patients with proximal 10q trisomy have been documented. Well defined clinical features of proximal 10q trisomy syndrome are growth and developme...
متن کاملFurther delineation of the partial proximal trisomy 10q syndrome.
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 ...
متن کاملAssociation of vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies with auricle atresia; a case report
Association of vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies (VACTERL) is rare anomaly with an incidence of 1.6 per 10000 births. This condition is a combination of anomalies recognized as a hereditary entity with poor prognosis. Herein, we report VACTERL association presenting with auricle atresia. A male neonate with a birth weight of 2690 grams, head circumference 3...
متن کاملPartial 10q trisomy with partial 12q monosomy.
A case of partial trisomy 10q with partial monosomy 12q is reported. The chromosomal abnormalities resulted from a paternal balanced, reciprocal translocation involving chromosomes 10 and 12, which, to the best of our knowledge, has not been previously described.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2000
ISSN: 1468-6244
DOI: 10.1136/jmg.37.9.e24