A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

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A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11;22) translocation carriers. Carriers of this balanced translocation usually have no clinical symptoms and are often identified after the birth of offspring with ...

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Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review

Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.

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A child with a recombinant of chromosome 8 inherited from her carrier mother.

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newborn with supernumerary marker chromosome derived from chromosomes 11 and 22- a case report

the interpretation of supernumerary chromosome is important for genetic counseling and prognosis. here, we used snp array and conventional karyotyping method to identify a denovo marker chromosome originated from chromosome 22 and 11 in a newborn transferred to the neonatal intensive care unit of shahid sadoughi hospital in 2015.  clinical abnormalities identified in the newborn were dysmorphic...

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ژورنال

عنوان ژورنال: Balkan Journal of Medical Genetics

سال: 2015

ISSN: 1311-0160

DOI: 10.1515/bjmg-2015-0089