Sathya P, Tomkins D J, Freeman V, Paes B, Nowaczyk M J
Department of Pediatrics, Hamilton Health Sciences, Corporation and McMaster University, Ontario, Canada.
Am J Med Genet. 1999 May 21;84(2):116-9. doi: 10.1002/(sici)1096-8628(19990521)84:2<116::aid-ajmg6>3.0.co;2-3.
We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first patient with this chromosomal abnormality reported. He was born with minor anomalies, ambiguous genitalia, tracheomalacia, and he was developmentally delayed at age 9 months. The phenotype associated with this deletion may be characteristic. However, because of the absence of reported cases of other patients with loss of this chromosomal region, we cannot delineate the specific phenotype further. Ambiguous genitalia or hypogonadism has been reported in other patients with chromosomal rearrangements involving 12q24.
我们报告了一例12号染色体长臂新发间质性缺失的患者：46,XY,del(12)(q24.31q24.33)。据我们所知，这是首例报道的具有这种染色体异常的患者。他出生时伴有轻微畸形、生殖器模糊、气管软化，9个月大时发育迟缓。与这种缺失相关的表型可能具有特征性。然而，由于缺乏其他丢失该染色体区域患者的报道病例，我们无法进一步明确具体表型。在其他涉及12q24染色体重排的患者中曾报道过生殖器模糊或性腺功能减退。
