New anomalies found in the 11q-syndrome.
The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46XX del 11 (q23-q25). The main clinical manifestations included: trigonocephaly, flat broad nasal bridge, micrognathia, carp mouth, hypertelorism, low set ears, severe congenital heart disease, anomalies of limbs and external genitalia. In comparison to the previously reported cases of 11q-, the patient presented here had congenital anomalies not described before, including severe affected urogenital system, hypoplasia of the adrenal, accessory spleens and mild hydrocephaly.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D001344:Autopsy; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011859:Radiography