Calzolari C, Seracini D, Burgio G, Gaeta G, Pacini M, Giovannucci-Uzielli M L, Mainardi A
Clinica Pediatrica, Università di Firenze, Italia.
Pediatr Med Chir. 1988 Sep-Oct;10(5):531-4.
The authors describe a case of partial monosomy 9p in a newborn infant, with breakpoint in the region p221, due to a father's balanced translocation with karyotype 46 XY t(9;16)(p221;q224). The phenotypical features of our patient reproduce those reported in other 35 cases described up to now in the literature: trigonocephaly, upward slanting palpebral fistures, little and horizontal mouth, disproportionally long fingers and toes. Some peculiar clinical and cytogenetical features of the case are discussed, particularly the early closure of the sternal body ossification centers (already detected during the prenatal life), the partial agenesia of the splenium corporis callosi and the partial anomalous pulmonary venous return. The Authors point out the importance of an early diagnosis, based on the awareness to the clinical abnormalities and dysmorphisms, in order to provide for an adequate and opportune genetic counseling.
作者描述了一名新生儿9p部分单体病例，断点位于p221区域，原因是父亲核型为46 XY t(9;16)(p221;q224)的平衡易位。我们患者的表型特征与文献中迄今报道的其他35例病例相符：三角头畸形、睑裂向上倾斜、小嘴且呈水平状、手指和脚趾不成比例地长。讨论了该病例一些独特的临床和细胞遗传学特征，特别是胸骨体骨化中心早期闭合（产前已检测到）、胼胝体压部部分发育不全以及部分肺静脉异常回流。作者指出，基于对临床异常和畸形的认识进行早期诊断很重要，以便提供充分和适时的遗传咨询。
