Zaletaev D V, Dadali E L, Kuleshov N P
Tsitol Genet. 1987 May-Jun;21(3):213-6.
A male infant is described with dysmorphology of the head and face, neck, extremities and genitalia, as well as growth and mental retardation and with the de novo interstitial deletion of the proximal segment of the long arm of chromosome 1-del (1) (q22-q25). Comparison of the phenotypic characteristics of this patient with those of previously described patients with similar deletion confirms the existence of the proximal 1q deletion syndrome.
本文描述了一名男婴，其存在头面部、颈部、四肢及生殖器的畸形，同时伴有生长发育和智力迟缓，以及1号染色体长臂近端片段的新发间质性缺失——del(1)(q22-q25)。将该患者的表型特征与先前描述的具有类似缺失的患者进行比较，证实了近端1q缺失综合征的存在。
