Evidence for a possible Asian origin of YAP+ Y chromosomes.
Evidence for a possible Asian origin of YAP+ Y chromosomes.
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YAP Y 染色体可能起源于亚洲的证据。
DOI：
10.1016/s0002-9297(07)64077-4
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发表时间：
1997
影响因子：
9.8
通讯作者：
Hammer,MF
中科院分区：
文献类型：
--
作者：
Altheide,TK;Hammer,MF
图2位于2 p（D2 S113）和2 q（D2 S122）上的两个标记的分子结果。孩子表现出单一母系等位基因的纯合子遗传，而没有遗传父系等位基因。我们的患者和三位先前报道的母亲二体病患者都患有严重的IUGR，伴有羊水过少或羊水过少，以及出生后生长迟缓。（Bernard等，1995; Harrison等，1995; Webb等，1996;本研究），非典型支气管肺发育不良（Harrison等人，1995;本研究）或肺发育不全（Bernard等人，1995），尿道下裂（当前病例; Bernard et al. 1995），以及良好的运动和智力发育（Harrison et al. 1995; Webb et al. 1996;当前研究）。我们的病例也有耳前小凹，鸡胸，和第五指斜指。值得注意的是，最近有报道称会阴尿道下裂与胎盘功能障碍和IUGR有关（Nesperian et al. 1996）。与母体2号染色体二体相关的表型特征的可能原因包括母体2号染色体的印记效应、由于纯合性导致的常染色体隐性遗传病的暴露、未检测到的2号三体的低水平胎儿嵌合体、或继发于2号三体嵌合体或单亲二体（UPD）的胎盘功能障碍。先前报道的2例病例证实了2号三体的局限性胎盘镶嵌现象（Bernard et al. 1995; Webb et al. 1996）。Bernasconi等人报告的病例中未发现表型异常。（1996）提示，其他4例病例（Bernard et al. 1995; Harrisonet al. 1995; Webb et al. 1996;本研究）的结果与母体UPD无关。然而，IUGR的共同特征，羊水过少/羊水缺乏，肺发育不良/发育不全，尿道下裂提示潜在病因的可能性。对于2号三体和/或母体UPD 2型胎盘嵌合型的病例，应在产前评估羊水过少和IUGR，在产后评估尿道下裂、支气管肺发育不良和生长迟缓。通过鉴定和评估额外的情况下，母体二体性2和胎盘嵌合体的临床影响2三体可以划定。丽莎G.谢弗，1克里斯托弗麦卡斯基，1凯瑟琳A。EGLI，2 JOHN C.贝克，3和凯瑟琳M。JOHNSTON 2 '分子和人类遗传学系，贝勒医学院，休斯顿;儿科系，永久医疗集团，2旧金山弗朗西斯科和3奥克兰
Figure 2 Molecular results for two markers located on 2p (D2S113) and 2q (D2S122). The child shows the homozygous inheritance of a single maternal allele and failure to inherit a paternal allele. normalities or unusual childhood illnesses, our patient and three previously reported patients with maternal disomy 2 had bothsevere IUGR with oligohydramnios or anhydramnios and postnatal growth retardation (Bernard et al. 1995; Harrison et al. 1995; Webb et al. 1996; present study), atypical bronchopulmonary dysplasia (Harrison et al. 1995; present study) or pulmonary hy-poplasia (Bernard et al. 1995), hypospadias (current case; Bernard et al. 1995), and good motor and intellectual development (Harrison et al. 1995; Webb et al. 1996; present study). Our case also had preauricular ear pits, pectus carinatum, and fifth-finger clinodactyly. Of interest, perineal hypospadias has recently been reported in association with placental dysfunction and IUGR (Nesbitt et al. 1996). The possible causes for the pheno-typic features associated with maternal disomy 2 include maternal imprinting effects of chromosome 2, unmasking of autosomal recessive disease due to homozy-gosity, undetected low-level fetal mosaicism for trisomy 2, or placental dysfunction secondary to trisomy-2 mosaicism or uniparental disomy (UPD). Two of the previously reported cases had demonstrated confined pla-cental mosaicism for trisomy 2 (Bernard et al. 1995; Webb et al. 1996). The finding of no phenotypic abnormalities in the case reported by Bernasconi et al.(1996) is suggestive that the findings in these other four cases (Bernard et al. 1995; Harrisonet al. 1995; Webb et al. 1996; present study) are not contributed by or influenced by the maternal UPD. However, the common features of IUGR, oligohydramnios/anhydramnios, pulmo-nary dysplasia/hypoplasia, and hypospadias suggest the possibility of an underlying etiology. Cases identified with placental mosaicism for trisomy 2 and/or maternal UPD 2 should be assessed prenatally for oligohydram-nios and IUGR and postnatally for hypospadias, bron-chopulmonary dysplasia, and growth retardation. Through identification and assessment of additional cases, the clinical impact of maternal disomy 2 and placental mosaicism for trisomy 2 can be delineated. LISA G. SHAFFER, 1 CHRISTOPHER MCCASKILL, 1 CATHERINE A. EGLI, 2 JOHN C. BAKER, 3 AND KATHREEN M. JOHNSTON2'Department of Molecular and Human Genetics, Baylor College of Medicine, Houston; Department of Pediatrics, Permanente Medical Group, 2San Francisco and 3Oakland
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人类 Y 染色体变异的地理分布。
影响因子：
3.3
作者：
Hammer,MF;Spurdle,AB;Karafet,T;Bonner,MR;Wood,ET;Novelletto,A;Malaspina,P;Mitchell,RJ;Horai,S;Jenkins,T;Zegura,SL
通讯作者：
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影响因子：
9.8
作者：
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通讯作者：
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影响因子：
3.5
作者：
F. R. Santos;S. Pena;C. Tyler
通讯作者：
C. Tyler
DOI：
10.1073/pnas.94.7.3100
发表时间：
1997-04-01
影响因子：
11.1
作者：
Jorde, LB;Rogers, AR;Harpending, HC
通讯作者：
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影响因子：
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作者：
Templeton,AR;Routman,E;Phillips,CA
通讯作者：
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