[Association of male XX with Pierre Robin syndrome in a child whose father has a balanced 46XY, t (16; 17) (p13;q21) translocation].
作者信息
Petrus M, Bourrouillou G, Dutau G, Colombies P, Rochiccioli P
出版信息
J Genet Hum. 1981 Jun;29(2):191-6.
PMID:7199077
Abstract
The authors relate the association XX male and syndrome of Pierre Robin in a child whose father presents a reciprocal equilibrated translocation 46,XY t (16;17) (p13;q21). They discuss the possible relation between these different anomalies and notably the possibility of a genic effect.
摘要
相似文献
1
[Association of male XX with Pierre Robin syndrome in a child whose father has a balanced 46XY, t (16; 17) (p13;q21) translocation].
J Genet Hum. 1981 Jun;29(2):191-6.
2
Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.
Helv Paediatr Acta. 1988 Nov;43(3):245-8.
3
Duplication 11 (q21 to 23 leads to qter) syndrome.11号染色体重复（q21至23延伸至qter）综合征
Birth Defects Orig Artic Ser. 1977;13(3B):167-86.
4
5
[Recurrent Pierre-Robin syndrome in a family with translocation (author's transl)].一个患有易位的家庭中的复发性皮埃尔 - 罗宾综合征（作者译）
Jinrui Idengaku Zasshi. 1974 Jun;19(1):81.
6
Pierre-Robin syndrome: a case report.皮埃尔-罗宾综合征：一例病例报告。
Arch Gynecol Obstet. 2008 Jan;277(1):95-8. doi: 10.1007/s00404-007-0405-6. Epub 2007 Jul 6.
7
Identical chromosome imbalance in two siblings born to a mother with a double reciprocal translocation.
Ann Genet. 1997;40(4):232-4.
8
[Translocation T (1;15) (Q21;P13) in a male with azoospermia].[一名无精子症男性中的易位T(1;15)(q21;p13)]
Actas Urol Esp. 1989 Nov-Dec;13(6):465-6.
9
10
Duplication 8p syndrome: studies in a family with a reciprocal translocation between chromosomes 8 and 12.8p重复综合征：对一个8号和12号染色体发生相互易位的家族的研究。
Am J Med Genet. 1980;7(3):361-8. doi: 10.1002/ajmg.1320070318.
Zotero 插件