Structural rearrangements of chromosome band 1p31p32 are rare, and their phenotypic consequences remain poorly delineated. Up to 12 patients with learning difficulties, developmental delay, multiple congenital anomalies and microdeletion of the chromosome band 1p31p32 have been described. Inheritance of this deletion has not been reported previously. We describe the inheritance of the 1p32 deletion and discuss the relevance of this deletion to the described phenotype. The differences in clinical and molecular characteristics between the proband and other published reports are reviewed. Patients were evaluated in Genetics Clinic with history, examination and investigation. The existing literature on interstitial deletions of 1p was reviewed. Here, we report on a three-generation family, where the index patient was an adult female with learning difficulty, dysmorphic features, microcephaly, ambiguous genitalia, congenital hip dislocation and brachydactyly in whom a maternally inherited 1.45 Mbp interstitial deletion was detected at 1p32.3. Both her mother and maternal grandmother have learning difficulties and dysmorphic features. There are 14 OMIM genes in the deleted region including LRP8 and DMRTB1. The NFIA gene is not deleted in this family. The first report of a familial 1p32 microdeletion in three generations of a family carrying the smallest reported a deletion involving this region and brachydactyly as a previously unreported feature.

中文翻译：

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1p32微缺失的第一个家族性报告的临床和分子表征。

染色体条带1p31p32的结构重排很少，其表型后果仍然难以确定。已经描述了多达12名学习困难，发育迟缓，多个先天性异常和染色体1p31p32缺失的患者。以前没有此删除的继承报告。我们描述了1p32缺失的遗传，并讨论了该缺失与所描述表型的相关性。综述了先证者和其他已发表报告之间临床和分子特征的差异。在遗传学诊所对患者进行了病史，检查和调查。审查了有关1p间质性缺失的文献。在这里，我们报告了一个三代家庭，索引患者为成年女性，有学习困难，畸形，小头畸形，生殖器模棱两可，先天性髋关节脱位和近距离畸形，其中母体遗传的1.45 Mbp间隙缺失在1p32.3处被检测到。她的母亲和外祖母都有学习困难和畸形特征。缺失区域中有14个OMIM基因，包括LRP8和DMRTB1。NFIA基因在该家族中没有缺失。在携带最小的家族的三代人中，家族性1p32微缺失的首次报道报道了涉及该区域的缺失，近距离地缺失是以前未报道的特征。3.她的母亲和外祖母都有学习困难和畸形。缺失区域中有14个OMIM基因，包括LRP8和DMRTB1。NFIA基因在该家族中没有缺失。在携带最小的家族的三代人中，家族性1p32微缺失的首次报道报道了涉及该区域的缺失，近距离地缺失是以前未报道的特征。3.她的母亲和外祖母都有学习困难和畸形。缺失区域中有14个OMIM基因，包括LRP8和DMRTB1。NFIA基因在该家族中没有缺失。在携带最小的家族的三代人中，家族性1p32微缺失的首次报道报道了涉及该区域的缺失，近距离地缺失是以前未报道的特征。