Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features
نویسندگان
چکیده
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.
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 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 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 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 ...
متن کاملMicroduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
متن کامل