A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies

American Journal of Medical Genetics

Volumn 140 A, Issue 1, 2006, Pages 88-91

  Yamamoto, Toshiyuki ^a,e   Ueda, Hideaki ^a   Kawataki, Motoyoshi ^a   Yamanaka, Michiko ^a   Asou, Toshihide ^a   Kondoh, Yuki ^b   Harada, Naoki ^b,d   Matsumoto, Naomichi ^c,d   Kurosawa, Kenji ^a  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b Kyushu Medical Science Nagasaki Laboratory   (Japan)

^c YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^e TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

17p11.2; Cyanotic congenital heart disease; Dysplastic kidney; Fluorescence in situ hybridization (FISH); Large interstitial deletion; Smith Magenis syndrome

Indexed keywords

ARTICLE; CASE REPORT; CAUSE OF DEATH; CHROMOSOME 17; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; CYSTIC ADENOMATOID MALFORMATION; FACE DYSMORPHIA; FALLOT TETRALOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INFANT; KIDNEY MALFORMATION; LUNG ATRESIA; MILLER DIEKER SYNDROME; MULTIPLE MALFORMATION SYNDROME; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; RADIOGRAPHY; SMITH MAGENIS SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; DUCTUS ARTERIOSUS, PATENT; FACE; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; KIDNEY; LUNG; PULMONARY ATRESIA; SYNDROME; TETRALOGY OF FALLOT;

EID: 30144440203     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31055     Document Type: Article

References (14)

1. Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. 2003. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet 72:918-930.
2. Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith ACM, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. 1991. Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet 49:1207-1218.
3. Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR. 1996. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet 62:247-254.
4. Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH. 1997. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet 6:157-164.
5. Mutchinick OM, Shaffer LG, Kashork CD, Cervantes EI. 1999. Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci. Am J Med Genet 85:99-104.
6. Myers SM, Challman TD. 2004. Congenital heart defects associated with Smith-Magenis syndrome: Two cases of total anomalous pulmonary venous return. Am J Med Genet 131A: 99-100.
7. Natacci F, Corrado L, Pierri M, Rossetti M, Zuccarini C, Riva P, Miozzo M, Larizza L. 2000. Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. Am J Med Genet 95:467-472.
8. Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH. 1993. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 364:717-721.
9. Shaw CJ, Lupski JR. 2005. Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Hum Genet 116:1-7.
10. Shaw CJ, Withers MA, Lupski JR. 2004. Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. Am J Hum Genet 75:75-81.
11. Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T. Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. 2004. Molecular characterization of inv dup del(8p): Analysis of five cases. Am J Med Genet Part A 128A:133-137.
12. Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH. 2003. Mutations in RAI1 associated with Smith-Magenis syndrome. Nature Genet 33:466-468.
13. Smith ACM, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonana J, Reiss J, Lahr M, Allen L, Magenis E. 1986. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet 24:393-414.
14. Wong JT, Chan DK, Wong KY, Tan M, Rudduck C, Tien SL. 2003. Smith-Magenis syndrome and cyanotic congenital heart disease: A case report. Clin Dysmorphol 12: 73-74.