The natural history of trisomy 12p.
Trisomy of the short arm of chromosome 12 is a rare chromosomal anomaly, with an estimated incidence of 1/50,000 births. It may present as a pure trisomy (complete or incomplete), as mosaic trisomy, or with other chromosomal abnormalities. Little is known from prior reports about the natural history and life expectancy of these individuals. In this study we describe the long-term outcome and the differences between patients with mosaic trisomy 12p compared to patients with complete trisomy. We present a series of 16 patients with trisomy 12p; 6 of them are older than 10 years. Most patients were born at term with normal or above normal birth weight. Seven were born with congenital anomalies, but no single anomaly was present in more than one individual. A clear and consistent dysmorphic facial pattern was apparent in all of the subjects. Most patients over 7 years old had a seizure disorder. All individuals exhibited developmental delay with speech affected more severely than motor skills. Six patients were described as "being social." Six had severe behavioral problems, and seven had significant sleep disturbances. Facial features of the three adult patients were different than the younger individuals. We show here that the outcome for patients with mosaic trisomy 12p is better than the outcome in complete trisomy 12p or in trisomy 12p with other chromosomal anomalies. We also provide recommendations for the long-term follow-up of patients with trisomy 12p.
Segel
Reeval
R
Department of Pediatrics, Division of Genetics, Tufts-New England Medical Center, Boston, Massachusetts 02111, USA.
Peter
Inga
I
Demmer
Laurie A
LA
Cowan
Janet M
JM
Hoffman
Jodi D
JD
Bianchi
Diana W
DW
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology / Q000523:psychology; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005260:Female; D005865:Gestational Age; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012919:Social Behavior; D011795:Surveys and Questionnaires; D013577:Syndrome; D014314:Trisomy