De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights
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چکیده
منابع مشابه
Partial 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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We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and monosomy 7p22.3. We describe the patient’s clinical presentation, along with his cytogenetic analysis, and we compare the findings to those of simi...
متن کاملPartial trisomy 6q: case report with necropsy findings.
A male infant with partial trisomy 6q is described. This patient shares features with 12 previously reported cases including hypertelorism, cleft soft palate, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation. In addition, visceral anomalies less frequently reported are described. These observations may extend the phenot...
متن کاملA third case of de novo partial trisomy 4p.
Interestingly, the previously reported patient with a different but overlapping deletion of chromosome 12 long arm (q13.3-q21.1) and the subject of this report have only a few features in common (table). The deletion in each includes the portion 12q13.3 to q21. 1. It is unclear whether the small difference in the portion of 12q deleted accounts for the fact that they do not resemble each other ...
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...
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ژورنال
عنوان ژورنال: Brain Sciences
سال: 2020
ISSN: 2076-3425
DOI: 10.3390/brainsci11010021