[The phenotype of the trisomy of the short arm of chromosome no. 4. (a new case with t (4p; 11q) (author's transl)].
Report on a 5 year old girl with the caracteristic features of the partial trisomy of the short arm of a chromosome no.4: short stature, microcephaly, hydrocephaly, enophthalmus, bulbous nose, deep set malformed ears, hypertrichosis, brachydactyly, hypoplastic ribs, abnormal EEG, imbecility. Trisomy originated from a reciprocal translocation in the father (46, XY, rcp (4;11) (p 13; q23)). q23)).
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002905:Chromosomes, Human, 4-5; D004392:Dwarfism / Q000150:complications; D004569:Electroencephalography; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008831:Microcephaly / Q000150:complications; D010641:Phenotype; D012272:Ribs / Q000002:abnormalities; D014178:Translocation, Genetic; D014314:Trisomy
Der Phänotyp der Trisomie des kurzen Arms eines Chromosoms Nr.4 (Ein neuer Fall mit t (4 p; 11 q)