Partial trisomy 13q22----qter. A new case.
A newborn male patient with a partial trisomy 13q22----qter, derived from a maternal translocation (13;15)(q22;p11) is reported. This non-frequent chromosomal anomaly leads to a characteristic phenotype easily recognizable from other craniosynostosis syndromes, in which the cranial malformation is often associated with auricular and limb defects. This phenotype includes: cranial malformation, characteristic facies, mental and developmental retardation, urologic and genital anomalies, polydactily, abnormal muscular tonicity and convulsive status. Our patient, a "pure" partial trisomy, without other associated chromosomal anomaly, is compared with the published cases.
Departamento de Pediatría, Facultad de Medicina, Campus Universitario San Vincente del Raspeig, Alicante, Spain.
F
F
Galán
R
R
García
M S
MS
Aguilar
M
M
Moya
D002882:Chromosomes, Human, Pair 13; D004431:Ear, External / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy