Heathcote J G, Sholdice J, Walton J C, Willis N R, Sergovich F R
Department of Pathology, St. Joseph's Health Centre, London, Ont.
Can J Ophthalmol. 1991 Feb;26(1):35-43.
We present a case of partial duplication of the short arm of chromosome 2 (karyotype 46,XX, dup [2p21-2p25]) in a newborn girl. The infant was born at 41 weeks of gestation and died approximately 3 hours after birth. At autopsy the characteristic dysmorphic features (hypertelorism, high, prominent forehead, micrognathia and low-set, malformed ears) and numerous other congenital malformations were observed. Bilateral microcornea with opacities was noted. Histopathological examination of the eyes showed dysgenesis of Bowman's membrane, with glycosaminoglycan deposition and a series of structural anomalies that form part of the anterior segment mesenchymal dysgenesis (ASMD) complex. To our knowledge this is the first case of partial duplication of the short arm of chromosome 2 in which the ocular histopathological features have been studied. Our case provides a further example of the association of ASMD with a chromosomal abnormality.
我们报告了一例新生儿女孩2号染色体短臂部分重复的病例（核型46,XX, dup [2p21 - 2p25]）。该婴儿孕41周出生，出生后约3小时死亡。尸检时观察到特征性的畸形特征（眼距过宽、高额、前额突出、小颌及低位、畸形耳）以及许多其他先天性畸形。发现双侧微小角膜伴混浊。眼部组织病理学检查显示Bowman膜发育异常，有糖胺聚糖沉积以及一系列构成前段间充质发育异常（ASMD）复合体一部分的结构异常。据我们所知，这是首例对2号染色体短臂部分重复病例进行眼部组织病理学特征研究的病例。我们的病例进一步例证了ASMD与染色体异常之间的关联。
