Tetrasomy 9q in an infant with cleft palate and multiple anomalies.
We report a patient with partial tetrasomy 9q resulting from a de novo triplication of 9q13q22.1. The clinical features, including microcephaly, beaked nose, short palpebral fissures, camptodactyly, joint contractures, and moderate developmental delay were similar to trisomy 9q, although our patient also had unique features including cleft palate and several unexplained fractures. The latter could be secondary to abnormal tone and contractures. Although tetrasomy 9p is a well-known entity, our patient, to our knowledge, is the first and only individual reported to have tetrasomy 9q.
McPherson
Elizabeth
E
Medical Genetics Services, Marshfield Clinic, Marshfield, WI 54449 Cleft Craniofacial Center, University of Pittsburgh Magee Womens Hospital and University of Pittsburgh, Pittsburgh, PA 15219.
Neiswanger
Katherine
K
Surti
Urvashi
U
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000782:Aneuploidy; D002871:Chromosome Banding; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D002972:Cleft Palate / Q000473:pathology*; D002658:Developmental Disabilities / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000473:pathology; D009666:Nose / Q000002:abnormalities