Recombination of a maternal pericentric inversion results in 22q13 deletion syndrome

被引：4
|
作者：
Tagaya, Mitsuhiko [1 ]
Mizuno, Seiji [3 ]
Hayakawa, Masahiro [2 ]
Yokotsuka, Taro [1 ]
Shimizu, Satoko [1 ]
Fujimaki, Hidehiko [1 ]
机构：
[1] Toyota Mem Hosp, Dept Neonatol, Aichi 4718513, Japan
[2] Nagoya Univ Hosp, Matern & Perinatal Care Ctr, Nagoya, Aichi, Japan
[3] Cent Hosp, Aichi Human Serv Ctr, Dept Pediat, Aichi, Japan
来源：
CLINICAL DYSMORPHOLOGY | 2008年 / 17卷 / 01期
关键词：
chromosome; 22; pericentric inversion; recombinant chromosome; 22q13 deletion syndrome;
D O I：
10.1097/MCD.0b013e3281c1c81d
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We describe a 10-month-old boy with 22q13 deletion syndrome. Chromosomal analysis showed a partial duplication of 22p11.2-pter and a terminal deletion of 22q13.31-qter. Maternal chromosomal analysis showed a pericentric inversion of chromosome 22, with breakpoints at p11.2 and q13.31 [inv(22)(p11.2q13.31)]. The deleted chromosome resulted from a recombinant chromosome inherited from his mother. This is a rare case of 22q13 deletion syndrome associated with parental pericentric inversion of chromosome 22.
引用
收藏
页码：19 / 21
页数：3
相关论文
共 50 条
  • [21] Pericentric inversion causing duplication and deletion of chromosome region 13q22 → qter in the offspring
    Patil, Siddramappa J.
    Phadke, Shubha R.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (01) : 82 - 84
  • [22] Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome
    Tabolacci, E
    Zollino, M
    Lecce, R
    Sangiorgi, E
    Gurrieri, F
    Leuzzi, V
    Opitz, JM
    Neri, G
    CLINICAL DYSMORPHOLOGY, 2005, 14 (03) : 127 - 132
  • [23] Molecular characterization of the 22q13 deletion syndrome: comparison of over 50 cases.
    McDermid, HE
    Tse, WY
    Stapleton, GA
    Artifoni, L
    Dallapiccola, B
    Wilson, HL
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 608 - 608
  • [24] Mitochondrial Disease in 22q13 Duplication Syndrome
    Frye, Richard E.
    JOURNAL OF CHILD NEUROLOGY, 2012, 27 (07) : 942 - 949
  • [25] Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)
    Kurtas, Nehir
    Arrigoni, Filippo
    Errichiello, Edoardo
    Zucca, Claudio
    Maghini, Cristina
    D'Angelo, Maria Grazia
    Beri, Silvana
    Giorda, Roberto
    Bertuzzo, Sara
    Delledonne, Massimo
    Xumerle, Luciano
    Rossato, Marzia
    Zuffardi, Orsetta
    Bonaglia, Maria Clara
    JOURNAL OF MEDICAL GENETICS, 2018, 55 (04) : 269 - 277
  • [26] Overgrowth and retarded development associated with chromosome 22q13 deletion
    Hinkel, GK
    Bartsch, G
    Blin, N
    Friebel, D
    Klengel, S
    Kraft, S
    Schroder, K
    Werner, W
    MONATSSCHRIFT KINDERHEILKUNDE, 1997, 145 (09) : 892 - 896
  • [27] Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association
    Maria Tufano
    Claudia Della Corte
    Francesco Cirillo
    Maria Immacolata Spagnuolo
    Manila Candusso
    Daniela Melis
    Giuliano Torre
    Raffaele Iorio
    European Journal of Pediatrics, 2009, 168 : 225 - 227
  • [28] Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association
    Tufano, Maria
    Della Corte, Claudia
    Cirillo, Francesco
    Spagnuolo, Maria Immacolata
    Candusso, Manila
    Melis, Daniela
    Torre, Giuliano
    Iorio, Raffaele
    EUROPEAN JOURNAL OF PEDIATRICS, 2009, 168 (02) : 225 - 227
  • [29] Emotion regulation and development in children with autism and 22q13 Deletion Syndrome: Evidence for group differences
    Glaser, Sarah E.
    Shaw, Steven R.
    RESEARCH IN AUTISM SPECTRUM DISORDERS, 2011, 5 (02) : 926 - 934
  • [30] A unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms' tumor
    Kirkpatrick, Brianne E.
    El-Khechen, Dima
    CLINICAL DYSMORPHOLOGY, 2011, 20 (01) : 53 - 54
12345