Delicado A, Escribano E, Lopez Pajares I, Diaz de Bustamante A, Carrasco S
Sección de Genética Medica, Hospital de la SS La Paz, Madrid, Spain.
J Med Genet. 1991 Feb;28(2):126-7. doi: 10.1136/jmg.28.2.126.
We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical findings are compared with those found in previous reports of trisomy 7p. Finally, some general principles for genetic counselling are discussed.
我们报告了一名患有面部畸形特征、外生殖器发育不全、肠旋转不良、先天性心脏缺陷和轻度肢体异常的儿童。染色体研究显示一条重组7号染色体，rec(7)dup p，由母亲的7号染色体臂间倒位inv(7)(p15 q36)所致。因此，这名儿童除了有一小段7号染色体远端单体性外，还存在7号染色体短臂部分三体性。将该临床发现与先前关于7号染色体短臂三体性的报告结果进行了比较。最后，讨论了遗传咨询的一些一般原则。
