A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter).

Annales de genetique Pub Date : 1999-01-01
T Lukusa, K Devriendt, J P Fryns
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Abstract

A child with monosomy for the distal part of the short arm of chromosome 3 (3p25-->pter) and trisomy for the terminal portion of the long arm of chromosome 17 (17q23-->qter) is presented. This unbalanced karyotype was derived from a balanced reciprocal 3p/17q translocation in the phenotypically normal mother. Main clinical features in the proband included growth and mental retardation, hypotonia, hirsutism, micro/brachycephaly, triangular face, synophris, broad and full nose, long philtrum, narrow upper lip, low set, posteriorly turned ears, anteriorly placed anus and congenital heart defect (Tetralogy of Fallot). Most of these clinical manifestations have been constantly reported in previous cases with terminal 3p deletion.

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在患有del(3)(p25- >pter)和dup(17)(q23- >qter)的儿童中发现3p缺失综合征
3号染色体短臂远端(3p25- >pter)为单体,17号染色体长臂末端(17q23- >qter)为三体。这种不平衡的核型来自于表型正常的母亲的平衡的3p/17q互惠易位。先证者的主要临床特征为发育迟缓、智力低下、多毛、微/短头畸形、三角形脸、滑膜、宽而饱满的鼻子、中心长、上唇窄、下颌低、耳后翻、肛门前置、先天性心脏缺陷(法洛四联症)。这些临床表现在以前终末3p缺失的病例中经常被报道。
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