一名因遗传性t(X;15)(p22.3;p10)易位导致Xp22.3单体型而在产前诊断出孤立性身材矮小的男婴出生。
Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation.
作者信息
Blondeel E, Molina-Gomes D, Bouhanna P, Fauvert D, Crosnier H, Dessuant H, Vialard F
机构信息
Department of Cytogenetics, Foetal Pathology, Obstetrics and Gynecology, Poissy Saint-Germain-en-Laye Hospital Poissy, France ; Versailles Saint-Quentin-en-Yvelines University Versailles, France.
Department of Cytogenetics, Foetal Pathology, Obstetrics and Gynecology, Poissy Saint-Germain-en-Laye Hospital Poissy, France.
出版信息
Clin Case Rep. 2014 Jun;2(3):98-102. doi: 10.1002/ccr3.71. Epub 2014 May 5.
Translocations between X and acrocentric chromosomes are rare. We report on the inheritance of a familial t(X;15)(p22.3;p10) translocation in a fetus referred for short long bones. Cytogenetic analysis revealed an unbalanced translocation combined with a three-gene nullosomy. After genetic counseling, a prognosis was established and a healthy boy was delivered.
X染色体与近端着丝粒染色体之间的易位很少见。我们报告了一名因长骨短小前来就诊的胎儿中家族性t(X;15)(p22.3;p10)易位的遗传情况。细胞遗传学分析显示存在不平衡易位并伴有三基因单体。经过遗传咨询后，做出了预后判断，随后分娩出一名健康男婴。
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