Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features.
Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome. We report a nine-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother, and originated in the maternal grandmother's meiosis. In addition to mental retardation, hypotonia, craniofacial anomalies, and cryptorchidism, he has novel findings such as, joint hyperextensibility, left liver lobe agenesis, left sided malposition of the gallbladder and pancreas hypoplasia. This is the first report associating these features with Emanuel syndrome.
Yosunkaya Fenerci
E
E
Department of Medical Biology, Cerrahpasa School of Medicine, Istanbul University, Istanbul, Turkey. yosunkayafenerci@hotmail.com
Guven
G S
GS
Kuru
D
D
Yilmaz
S
S
Tarkan-Argüden
Y
Y
Cirakoglu
A
A
Deviren
A
A
Yüksel
A
A
Hacihanefioğlu
S
S
D002648:Child; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000235:genetics*; D003456:Cryptorchidism / Q000150:complications* / Q000235:genetics*; D020732:Cytogenetic Analysis; D005704:Gallbladder / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics*; D008099:Liver / Q000002:abnormalities; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications* / Q000235:genetics*; D010179:Pancreas / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic