UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILD AND A NORMAL ADULT
UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILD AND A NORMAL ADULT
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DOI：
10.1002/ajmg.1320590302
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发表时间：
1995-11-20
期刊：
影响因子：
--
通讯作者：
KOUSSEFF, BG
中科院分区：
文献类型：
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作者：
PAPENHAUSEN, PR;MUELLER, OT;KOUSSEFF, BG
许多不同染色体的单亲二体性（UPD）已被发现与异常表型相关。越来越多的证据涉及14号染色体的印记效应已经积累，我们报告一例父亲的UPD的14号染色体研究妊娠晚期由于羊水过多和腹壁疝。产前核型记录平衡罗伯逊14：14易位。婴儿早产，前额多毛，下颌后缩，嘴唇轻微起皱，手指挛缩。从出生到一岁时，张力减退一直存在，喉软化需要气管造口术，进食需要胃造口术。14号染色体D14 S22和D14 S13位点上没有母本VNTR多态性和父本多态性纯合性表明为父本单亲同二体性（pUPID），亲本染色体正常。我们还报告了一例平衡罗伯逊14：14易位和多次流产史的正常患者中的母亲UPD，以前的5份14号染色体UPD的报告表明，当UPD是父系起源时，不利的发育影响可能会更严重。这是第二个报告的患者与父亲的UPD和第五个报告与母亲的UPD，只有少数表型相似是明显的。检查这些14号染色体的母亲和父亲起源的UPD病例表明，有综合征印迹效应。(C)1995 Wiley-Liss，Inc.
Uniparental disomy (UPD) of a number of different chromosomes has been found in association with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating, We report on a case of paternal UPD of chromosome 14 studied in late gestation due to polyhydramnios and a ventral wall hernia. A prenatal karyotype documented a balanced Robertsonian 14:14 translocation. The baby was born prematurely with hairy forehead, retrognathia, mild puckering of the lips and finger contractures. Hypotonia has persisted since birth and at age one year, a tracheostomy for laryngomalacia and gastrostomy for feeding remain necessary. Absence of maternal VNTR polymorphisms and homozygosity of paternal polymorphisms using chromosome 14 specific probes at D14S22 and D14S13 loci indicated paternal uniparental isodisomy (pUPID), Parental chromosomes were normal. We also report on a case of maternal UPD in a normal patient with a balanced Robertsonian 14:14 translocation and a history of multiple miscarriages, Five previous reports of chromosome 14 UPD suggest that an adverse developmental effect may be more severe whenever the UPD is paternal in origin. This is the second reported patient with paternal UPD and the fifth reported with maternal UPD, and only few phenotypic similarities are apparent. Examination of these chromosome 14 UPD cases of maternal and paternal origin suggests that there are syndromic imprinting effects. (C) 1995 Wiley-Liss, Inc.