UNIPARENTAL DISOMY FOR CHROMOSOME 6 AND AMBIGUOUS MALE GENITALIA: TWO CASES OF THIS UNUSUAL ASSOCIATION

被引:0
|
作者
Lazier, J. [1 ,2 ]
Martins, N. [1 ]
Stavropolous, J. [3 ]
Babul-Hirji, R. [4 ]
Chitayat, D. [1 ,4 ]
机构
[1] Mt Sinai Hosp, Dept Obstet & Gynaecol, Prenatal Diag & Med Genet Program, Toronto, ON, Canada
[2] Univ Alberta, Dept Med Genet, Edmonton, AB, Canada
[3] Hosp Sick Children, Dept Paediat Lab Med, Toronto, ON, Canada
[4] Univ Toronto, Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON, Canada
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1495 / 1495
页数:1
相关论文
共 50 条
  • [21] Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6
    Milenkovic, T
    Zdravkovic, D
    Gardner, RJ
    Ignjatovic, M
    Jankovic, B
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2001, 14 (07): : 893 - 895
  • [22] A unique case of uniparental disomy of chromosome 6 and neonatal diabetes with macroglossia.
    Israel, J
    Vasa, R
    Loebl, C
    Ledbetter, D
    Christian, S
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A102 - A102
  • [23] Methylation profiling in cases with uniparental disomy identifies novel imprinted genes on chromosome 15
    Steiner, Bernhard
    Sharp, Andrew J.
    Dupre, Yann
    Sailani, Mohammad Reza
    Robinson, David O.
    Brunner, Han
    Baumer, Alessandra
    Schinzel, Albert
    Antonarakis, Stylianos E.
    SWISS MEDICAL WEEKLY, 2009, 139 (21-22) : 24S - 24S
  • [24] True Hermaphroditism in a phenotypic male without ambiguous genitalia: An unusual presentation at puberty
    Alonso, Guillermo
    Pasqualini, Titania
    Busaniche, Julio
    Ruiz, Eduardo
    Chemes, Hector
    HORMONE RESEARCH, 2007, 68 (05) : 261 - 264
  • [25] Mosaicism for genome-wide paternal uniparental disomy - two prenatal cases
    Lemos, Raquel
    Ventura, Cintia
    Torres, Fatima
    Fernandes, Gabriela
    Duraes, Isabel
    Pereira, Aurea
    Costa, Patricia
    Castro, Jorge
    Brito, Conceicao
    Cerqueira, Rita
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 114 - 115
  • [26] Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy
    Berend, SA
    Feldman, GL
    McCaskill, C
    Czarnecki, P
    Van Dyke, DL
    Shaffer, LG
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 82 (03): : 275 - 281
  • [27] Transient Neonatal Diabetes Mellitus with Macroglossia Caused by Paternal Uniparental Disomy of Chromosome 6
    Choi, Jin-Ho
    Kim, Gu-Hwan
    Yoo, Han-Wook
    HORMONE RESEARCH, 2008, 70 : 62 - 62
  • [28] Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus
    Christian, SL
    Rich, BH
    Loebl, C
    Israel, J
    Vasa, R
    Kittikamron, K
    Spiro, R
    Rosenfield, R
    Ledbetter, DH
    JOURNAL OF PEDIATRICS, 1999, 134 (01): : 42 - 46
  • [29] RING CHROMOSOME 9 - 46,XY,R(9) IN A MALE WITH AMBIGUOUS EXTERNAL GENITALIA
    METAXOTOU, C
    KALPINIMAVROU, A
    HUMAN GENETICS, 1977, 37 (03) : 351 - 354
  • [30] A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9
    Wilkinson, TA
    James, RS
    Crolla, JA
    Cockwell, AE
    Campbell, PL
    Temple, IK
    PRENATAL DIAGNOSIS, 1996, 16 (04) : 371 - 374