Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11).
A 1-year-old boy with trisomy 18 (pter----q12) following a paternal balanced translocation revealed microcephaly, a pattern of minor dysmorphic features including upslanting narrow palpebral fissures, receding forehead, large nose and receding mandible, cryptorchidism, flexion contractures of fingers, a cardiac malformation and moderate mental retardation. While pure trisomy 18p generally goes along with a near-normal phenotype, additional trisomy of only a short segment of the proximal long arm 18 has a distinct negative influence on the phenotype, as seen in our proband.
Binkert
F
F
Institute of Medical Genetics, University of Zürich, Switzerland.
Stranzinger
J
J
Schinzel
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D005145:Face / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000209:etiology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012886:Skull / Q000002:abnormalities; D014178:Translocation, Genetic; D014314:Trisomy