Petersen M B, Hansen M, Djernes B W
Department of Medical Genetics, John F. Kennedy Institute, Glostrup, Denmark.
Ann Genet. 1987;30(2):101-4.
Karyotype 47,XY,+22 was found in a newborn infant with primitive and low-set ears, bilateral preauricular pit, broad nasal bridge, antimongoloid palpebral fissures, macroglossia, enlarged sublingual glands, cleft palate, micrognathia, clinodactyly of the fifth fingers, hypoplastic finger nails, hypoplastic genitalia, short lower limbs, bilateral sandal gap and deep plantar furrows. The child developed signs of congenital heart disease and died at the age of 10 weeks. Non-disjunction studies showed maternal origin (meiosis I) of the extrachromosome.
在一名患有耳原始且低位、双侧耳前凹、鼻梁宽、睑裂反蒙古样、巨舌、舌下腺肿大、腭裂、小颌、第五指屈曲指、指甲发育不全、生殖器发育不全、下肢短、双侧摇椅底足和足底深沟的新生儿中发现核型为47,XY,+22。该患儿出现先天性心脏病体征，并于10周龄时死亡。不分离研究表明额外染色体来自母亲（减数分裂I）。
