Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities.
نویسندگان
چکیده
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.
منابع مشابه
Distal 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 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...
متن کاملProximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature
Proximal 10q duplication is a well-defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common distal 10q trisomy syndrome. The present study describes the case of a boy with phenotypic abnormalities (severe central hypotonia, mild ataxia, moderate developmental delay...
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, and a...
متن کاملPartial trisomy 10q with mild phenotype caused by an unbalanced X;10 translocation.
Trisomy 10 has been detected in spontaneous abortions and prenatally. Although there are no reports of duplication of the whole long arm of chromosome 10, duplication of 10q21–qter has been found in a stillborn infant. Trisomy of more distal 10q is associated with a characteristic syndrome and has been described in many cases which almost always are familial, 4 but patients with trisomy of the ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 35 1 شماره
صفحات -
تاریخ انتشار 1998