新的缺失综合征：1q43。

Juberg R C, Haney N R, Stallard R

Am J Hum Genet. 1981 May;33(3):455-63.

A male infant showed dysmorphology of the head and face, neck, extremities, and genitalia, as well as growth and mental retardation. His G-banded karyotype was 46,XY,--1+der(1),t(1;16)(q43;q24)mat. Combined with five previously reported cases involving similar terminal deletions beginning at 1q42 or 43, we show that the homology of phenotypic characteristics permits identification of a new deletion syndrome, the first involving chromosome 1.

一名男婴出现头面部、颈部、四肢及生殖器的畸形，以及生长发育迟缓和智力发育迟缓。他的G显带核型为46,XY,--1+der(1),t(1;16)(q43;q24)mat。结合之前报道的5例涉及从1q42或43开始的类似末端缺失的病例，我们发现表型特征的相似性有助于识别一种新的缺失综合征，这是首例涉及1号染色体的缺失综合征。