Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities.
نویسندگان
چکیده
منابع مشابه
Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities.
Since its description in 1965, distal 10q trisomy has become recognised as a well defined, although rare syndrome, almost always the result of an unbalanced translocation. Typical features consist of psychomotor delay, a distinctive dysmorphic appearance, growth retardation, and, in some cases, cardiac, renal, and ocular abnormalities.
متن کاملDistal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features
KEY CLINICAL MESSAGE We report on a patient with distal trisomy 10q syndrome presenting with a few previously undescribed physical features, as well as, autism spectrum disorder (ASD). We recommend that patients with distal trisomy 10q syndrome should have a behavioral evaluation for ASD for the early institution of therapy.
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 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 کاملPartial Distal 10q Trisomy Due to De Novo Amplification: A new Case Without Furrows or Ridges in Fingers and Palms
Background: Here we describe a new case of partial distal 10q trisomy in a 6-year-old Iranian girl from healthy parents with mental, growth, and psychomotor retardations. Methods: Additional clinical features include dysmorphic craniofacial features, microcephaly, bilateral hydronephrosis without heart problems, small and rotated low-set ears, bow-shaped mouth, abnormal teeth, short neck, an...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1998
ISSN: 1468-6244
DOI: 10.1136/jmg.35.1.72